Translate

BIBLIOGRAFIA



1. Abdallat A, Davis SM, Farrage J, McDonald WI. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. J Neurol Neurosurg Psychiatry. 1980;43:962–6. [PMC free article] [PubMed]

2. Antinolo G, Nieto M, Borrego S, Sierra J, Rufo M, Siljestrom ML. Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome? Clin Genet. 1992;41:281–4. [PubMed]

3. Ashley-Koch A, Bonner ER, Gaskell PC, West SG, Tim R, Wolpert CM, Jones R, Farrell CD, Nance M, Svenson IK, Marchuk DA, Boustany RM, Vance JM, Scott WK, Pericak-Vance MA. Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. Neurogenetics. 2001;3:91–7. [PubMed]

4. Badhwar A, Jansen A, Andermann F, Pandolfo M, Andermann E. Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene. Mov Disord. 2004;19:1424–31. [PubMed]

5. Bahemuka M, Brown JD. Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in ive siblings. Dev Med Child Neurol. 1982;24:519–24. [PubMed]

6. Bajaj NP, Waldman A, Orrell R, Wood NW, Bhatia KP. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J Neurol Neurosurg Psychiatry. 2002;72:635–8. [PMC free article] [PubMed]

7. Behan WM, Maia M. Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry. 1974;37:8–20. [PMC free article] [PubMed]

8. Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE. Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet. 1992;43:491–7. [PubMed]

9. Blumen SC, Bevan S, Abu-Mouch S, Negus D, Kahana M, Inzelberg R, Mazarib A, Mahamid A, Carasso RL, Slor H, Withers D, Nisipeanu P, Navon R, Reid E. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol. 2003;54:796–803. [PubMed]

10. Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol. 2005;57:567–71. [PubMed]

11. Chen S, Song C, Guo H, Xu P, Huang W, Zhou Y, Sun J, Li CX, Du Y, Li X, Liu Z, Geng D, Maxwell PH, Zhang C, Wang Y. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutat. 2005;25:135–41. [PubMed]

12. Claudiani P, Riano E, Errico A, Andolfi G, Rugarli EI. Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. Exp Cell Res. 2005;309:358–69. [PubMed]

13. Costeff H, Gadoth N, Apter N, Prialnic M, Savir H. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology. 1989;39:595–7. [PubMed]

14. Crosby AH, Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet. 2002;71:1009–16. [PMC free article] [PubMed]

15. Cross HE, McKusick VA. The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. Arch Neurol. 1967;16:1–13. [PubMed]

16. De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet. 1998;63:135–9. [PMC free article] [PubMed]

17. Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 2006;66:654–9. [PubMed]

18. Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet. 2002;11:153–63. [PubMed]

19. Errico A, Claudiani P, D'Addio M, Rugarli EI. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. Hum Mol Genet. 2004;13:2121–32. [PubMed]

20. Evans KJ, Gomes ER, Reisenweber SM, Gundersen GG, Lauring BP. Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. J Cell Biol. 2005;168:599–606. [PMC free article] [PubMed]

21. Farag TI, el-Badramany MH, al-Sharkawy S. Troyer syndrome: report of the first "non-Amish" sibship and review. Am J Med Genet. 1994;53:383–5. [PubMed]

22. Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology. 2004;63:1108–10. [PubMed]

23. Fink JK. The hereditary spastic paraplegias: nine genes and counting. Arch Neurol. 2003;60:1045–9. [PubMed]

24. Fink JK, Wu CT, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet. 1995;56:188–92. [PMC free article] [PubMed]

25. Fontaine B, Davoine CS, Durr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet. 2000;66:702–7. [PMC free article] [PubMed]

26. Fujii K, Sadoshima S, Kusuda K, Shirouzu A, Fujishima M. Two siblings with familial spastic paraplegia associated with decreased levels of factor XII. Rinsho Shinkeigaku. 1986;26:851–5. [PubMed]

27. Gilman S, Horenstein S. Familial amyotrophic dystonic paraplegia. Brain. 1964;87:51–66. [PubMed]

28. Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008;82:992–1002. [PMC free article] [PubMed]

29. Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet. 2002;70:1328–32. [PMC free article] [PubMed]

30. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983;1:1151–5. [PubMed]

31. Harding AE. Hereditary spastic paraplegias. Semin Neurol. 1993;13:333–6. [PubMed]

32. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999;23:296–303. [PubMed]

33. Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Durr A, Melki J, Lyon-Caen O, Agid Y. et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet. 1994;3:1569–73. [PubMed]

34. Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993;5:163–7. [PubMed]

35. Heijbel J, Jagell S. Spastic paraplegia, glaucoma and mental retardation--in three siblings. A new genetic syndrome. Hereditas. 1981;94:203–7. [PubMed]

36. Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Ben Hamida M, Siddique T. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet. 1994;3:1263–7. [PubMed]

37. Hodgkinson CA, Bohlega S, Abu-Amero SN, Cupler E, Kambouris M, Meyer BF, Bharucha VA. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology. 2002;59:1905–9. [PubMed]

38. Hughes CA, Byrne PC, Webb S, McMonagle P, Patterson V, Hutchinson M, Parfrey NA. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology. 2001;56:1230–3. [PubMed]

39. Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain. 2004;127:2124–30. [PubMed]

40. Joshita Y, Yamamoto Y, Satoh Y, Mizuno Y. Two siblings of familial spastic paraplegia with retinal pigment degeneration (sine pigment). Rinsho Shinkeigaku. 1982;22:789–94. [PubMed]

41. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994;7:402–7. [PubMed]

42. Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006;129:1456–62. [PubMed]

43. Kobayashi H, Hoffman EP, Marks HG. The rumpshaker mutation in spastic paraplegia. Nat Genet. 1994;7:351–2. [PubMed]

44. Lo Giudice M, Neri M, Falco M, Sturnio M, Calzolari E, Di Benedetto D, Fichera M. A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch Neurol. 2006;63:284–7. [PubMed]

45. Lo Nigro C, Cusano R, Scaranari M, Cinti R, Forabosco P, Morra VB, De Michele G, Santoro L, Davies S, Hurst J, Devoto M, Ravazzolo R, Seri M. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. Eur J Hum Genet. 2000;8:777–82. [PubMed]

46. Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM, Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z, Brice A. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch Neurol. 2006;63:756–60. [PubMed]

47. Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol. 2005;57:730–7. [PubMed]

48. Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet. 2006;79:351–7. [PMC free article] [PubMed]

49. Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999;53:50–6. [PubMed]

50. McMonagle P, Webb S, Hutchinson M. The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland. J Neurol Neurosurg Psychiatry. 2002;72:43–6. [PMC free article] [PubMed]

51. Meierkord H, Nurnberg P, Mainz A, Marczinek K, Mrug M, Hampe J. 'Complicated' autosomal dominant familial spastic paraplegia is genetically distinct from 'pure' forms. Arch Neurol. 1997;54:379–84. [PubMed]

52. Meijer IA, Cossette P, Roussel J, Benard M, Toupin S, Rouleau GA. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann Neurol. 2004;56:579–82. [PubMed]

53. Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, Quattrone A. A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. J Neurol. 2002;249:1413–6. [PubMed]

54. Munhoz RP, Kawarai T, Teive HA, Raskin S, Sato C, Liang Y, St George-Hyslop PH, Rogaeva E. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). Mov Disord. 2006;21:279–81. [PubMed]

55. Neuhauser G, Wiffler C, Opitz JM. Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome. Clin Genet. 1976;9:315–23. [PubMed]

56. Orlacchio A, Kawarai T, Gaudiello F, St George-Hyslop PH, Floris R, Bernardi G. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann Neurol. 2005;58:423–9. [PubMed]

57. Orlacchio A, Kawarai T, Rogaeva E, Song YQ, Paterson AD, Bernardi G, St George-Hyslop PH. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology. 2002;59:1395–401. [PubMed]

58. Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, Bernardi G. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol. 2004;61:849–55. [PubMed]

59. Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002;31:347–8. [PubMed]

60. Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH. The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet. 2001;69:209–15. [PMC free article] [PubMed]

61. Prasad AN, Breen JC, Ampola MG, Rosman NP. Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J Child Neurol. 1997;12:301–9. [PubMed]

62. Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol. 2004;251:1105–10. [PubMed]

63. Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet. 2003;73:967–71. [PMC free article] [PubMed]

64. Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics. 2005;6:79–84. [PubMed]

65. Refsum S, Skillicorn SA. Amyotrophic familial spastic paraplegia. Neurology. 1954;4:40–7. [PubMed]

66. Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet. 2000;66:728–32. [PMC free article] [PubMed]

67. Reid E, Dearlove AM, Whiteford ML, Rhodes M, Rubinsztein DC. Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. Neurology. 1999;53:1844–9. [PubMed]

68. Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet. 2002;71:1189–94. [PMC free article] [PubMed]

69. Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SK, Passos-Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000;92:122–7. [PubMed]

70. Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Neurology. 2003;61:1005–7. [PubMed]

71. Rousseaux M, Launay MJ, Kozlowski O, Daveluy W. Botulinum toxin injection in patients with hereditary spastic paraparesis. Eur J Neurol. 2007;14:206–12. [PubMed]

72. Sack GH, Huether CA, Garg N. Familial spastic paraplegia-clinical and pathologic studies in a large kindred. Johns Hopkins Med J. 1978;143:117–21. [PubMed]

73. Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet. 2005;77:41–53. [PMC free article] [PubMed]

74. Schwarz GA, Liu CN. Hereditary (familial) spastic paraplegia; further clinical and pathologic observations. AMA Arch Neurol Psychiatry. 1956;75:144–62. [PubMed]

75. Serena M, Rizzuto N, Moretto G, Arrigoni G. Familial spastic paraplegia with peroneal amyotrophy. A family with hypersensitivity to pyrexia. Ital J Neurol Sci. 1990;11:583–8. [PubMed]

76. Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, Bini R, Morra VB, De Michele G, Lerone M, Silengo M, Pela I, Borrone C, Romeo G, Devoto M. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet. 1999;64:586–93. [PMC free article] [PubMed]

77. Silver JR. Familial spastic paraplegia with amyotrophy of the hands. Ann Hum Genet. 1966;30:69–75. [PubMed]

78. Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet. 2003;73:1147–56. [PMC free article] [PubMed]

79. Sperfeld AD, Kassubek J, Crosby AH, Winner B, Ludolph AC, Uttner I, Hanemann CO. Complicated hereditary spastic paraplegia with thin corpus callosum: variation of phenotypic expression over time. J Neurol. 2004;251:1285–7. [PubMed]

80. Steinmuller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Muller U. Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet. 1997;100:287–9. [PubMed]

81. Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007;39:366–372. [PubMed]

82. Tamagaki A, Shima M, Tomita R, Okumura M, Shibata M, Morichika S, Kurahashi H, Giddings JC, Yoshioka A, Yokobayashi Y. Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet. 2000;94:5–8. [PubMed]

83. Thomas PK, Misra VP, King RH, Muddle JR, Wroe S, Bhatia KP, Anderson M, Cabello A, Vilchez J, Wadia NH. Autosomal recessive hereditary sensory neuropathy with spastic paraplegia. Brain. 1994;117(Pt 4):651–9. [PubMed]

84. Uyama E, Teramoto H, Hashimoto Y, Okamoto H, Araki S. Two siblings of familial spastic paraplegia with cutis verticis gyrata and mental retardation. Rinsho Shinkeigaku. 1988;28:97–101. [PubMed]

85. Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007;80:152–61. [PMC free article] [PubMed]

86. Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann Neurol. 2002;51:681–5. [PubMed]

87. Vazza G, Zortea M, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am J Hum Genet. 2000;67:504–9. [PMC free article] [PubMed]

88. Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, Crosby AH. A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol. 2004;251:1068–74. [PubMed]

89. Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet. 2005;42:80–2. [PMC free article] [PubMed]

90. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004;36:271–6. [PubMed]

91. Winner B, Uyanik G, Gross C, Lange M, Schulte-Mattler W, Schuierer G, Marienhagen J, Hehr U, Winkler J. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol. 2004;61:117–21. [PubMed]

92. Young RR. Spasticity: a review. Neurology. 1994;44(s9):S12–20. [PubMed]

93. Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet. 2001;29:326–31. [PubMed]

94. Zortea M, Vettori A, Trevisan CP, Bellini S, Vazza G, Armani M, Simonati A, Mostacciuolo ML. Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J Med Genet. 2002;39:387–90. [PMC free article] [PubMed]

95. Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006;79:365–9. [PMC free article] [PubMed]

Fonte: Ncbi

-----------------------------------------------------------------------------------

Baraitser M. ; Motulsky AG, Bobrow M, Harper PS, Scriver C, editors.The Genetics of Neurological Disorders. 2nd ed. New York: Oxford University Press, 1990; 15, Spastic paraplegia/HSP. p. 275-90.

Behan W, Maia M (1974) Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 37:8-20.

Boustany RN, Fleischnick E, Alper CA, Marazita ML, Spense MA, Martin JB, Kolodny EH (1987) The autosomal dominant form of "pure" familial spastic paraplegia. Neurology 37:910-5.

Bruyn RPM, van Deutekom J, Frants RR, Padberg GW (1993) Hereditary spastic paraparesis: clinical and genetic data from a large Dutch family. Clin Neurol Neurosurg 95:125-9.

Cambi F, Tartaglino L, Lublin FD, McCarren D (1995) X-linked pure familial spastic paraparesis: characterization of a large kindred with magnetic resonance imaging studies. Arch Neurol 52:665-9.

Cartlidge N, Bone G (1973) Sphincter involvement in hereditary spastic paraplegia. Neurology 23:1160-3.

Claus D, Waddy HM, Harding AE (1990) Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. Ann Neurol 28:43-9.

Cooley WC, Rawnsley E, Melkonian G, Moses C, McCann D, Virgin B, Coughlan J, Moeschler JB (1990) Autosomal dominant familial spastic paraplegia: report of a large New England family. Clin Gen 38:57-68.

Cross HE, McKusick VA (1967) The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16:473-85.

Dube, M.-P., Boutros, M., Figlewicz, D.A. and Rouleau, G.A. A new pure hereditary spastic paraplegia kindred maps to the proteolipid protein gene locus. Am J Hum Genet 61:A169-A1691997. (Abstract)

Durr A, Brice A, Serdaru M, Rancurel G, Derouesne C, Lyon-Caen O, Agid Y, Fontaine B (1994) The phenotype of "pure" artosomal dominant spastic paraplegia. Neurology 44:1274-7.

Figlewicz A, Dube MP, Farlow MR, Ebers G, Harper P, Kolodny E, Baumbach L, Rouleau GA (1994) Autosomal dominant familial spastic paraplegia: linkage analysis and evidence for linkage to chromosome 2p. Am J Hum Genet 55 (suppl):A185

Fink JK, Sharp G, Lange B, Wu CB, Haley T, Otterud B, Peacock M, Leppert M (1995a) Autosomal dominant hereditary spastic paraparesis, type I: clinical and genetic analysis of a large North American family. Neurology 45:325-31.

Fink JK, Wu CB, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M (1995b) Familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 56:188-92.

Fink JK, Heiman-Patterson T (1996) Hereditary spastic paraplegia: advances in genetic research. Neurology 46:1507-14.

Fink JK (1997) Advances in hereditary spastic paraplegia. Current Opinion in Neurology 10:313-8.

Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G (1995) Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am J Hum Genet 56:183-7.

Harding AE (1981) Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 44:871-83.

Harding AE (1993) Hereditary spastic paraplegias. Semin Neurol 13:333-6.

Hazan J, Fontaine B, Bruyn RPM, Lamy C, Van deutekom JCT, Rime CS, Durr A, Melki J, Lyoncaen O, Agid Y, Munnich A, Padberg GW, Derecondo J, Frants RR, Brice A, Weissenbach J (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 3:1569-73.

Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 5:163-7.

Hentati A, Pericack-Vance MA, Hung W-Y, et al. Linkage of the "pure" recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. [Abstract] Hum Genet 1993;53:1013

Hentati A, Pericak-Vance MA, Lennon F, Wasserman B, Hentati F, Juneja T, Angrist MH, Hung W, Boustany RM, Bohlega S, Iqbal Z, Huether CA, Ben Hamida M, Siddique T (1994) Linkage of the late onset automal dominant familial spastic paraplegia to chromosome 2p markers. Hum Molec Genet 3:1867-71.

Holmes G, Shaywitz B (1977) Strumpell's pure familial spastic paraplegia: case study and review of the literature. J Neurol Neurosurg Psychiatry 40:1003-8.

Kenwrick S, Ionasescu V, Ionasescu G, Searby C, King A, Dubowitz M, Davies KE (1986) Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet 73:264-6.

Keppen L, Leppert M, O'Connell P (1987) Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41:933-43.

Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nature Genet 7:351-2.

Lennon F, Gaskell PC, Woopert C, Aulsworth AS, Malin D, Warner C, Farell CD, Albright SG, Vance JM, Pericak-Vance MA (1995) Linkage and heterogeneity in hereditary spastic paraparesis. Am J Hum Genet (suppl) 1995:(in press)

McKusick VA. ; McKusick VA, editors.Mendelian Inheritance in Man. 8th ed. Baltimore: John Hopkins University Press, 1988a; 18260, Spastic Paraplegia. p. 677

McKusick VA. ; McKusick VA, editors.Mendelian Inheritance in Man. 8th ed. Baltimore: Johns Hopkins University Press, 1988b; 27080, Spastic Paraplegia, Hereditary. p. 1189

Nielsen, Koefoed P, Abell K, et. al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Molec Genet 1997;6:1811-1816,

Opjordsmoen S, Nyberg-Hansen R (1980) Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 61:35-41.

Pelosi L, Lanzillo B, Perretti A (1991) Motor and somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 54:1099-102.

Philipp E (1949) Hereditary (familial) spastic paraplegia: report of six cases in one family. New Zeal Med J 48:22-5.

Plassart E, Fontaine B (1994) Genes with triplet repeats: a new class of mutations causing neurological diseases. Biomed Pharmacother 48:191-7.

Polo JM, Calleja J, Combarris O, Berciano J (1993) Hereditary "pure" spastic paraplegia: a study of nine families. J Neurol Neurosurg Psychiatry 56:175-81.

Refsum S, Skillicorn SA (1954) Amyotrophic familial spastic paraplegia. Neurology 4:40-7.

Rhein J (1914) Family spastic paralysis. J Nerv Ment Dis 44:115-44.

Roe P (1963) Hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 26:516-9.

Rosenberg RN (1993) An introduction to the molecular genetics of neurological disease. Arch Neurol 50:1123-8.

Schady W, Dick JP, Sheard A, Crampton S (1991) Central motor conduction studies in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 54:775-9.

Schady W, Scheard A (1990) A qualitative study of sensory functions in hereditary spastic paraplegia. Brain 113:709-20.

Scheltens P, Bruyn RPM, Hazenberg GJ (1990) A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease). Acta Neurol Scand 82:169-73.

Schwarz GA, Liu C-N (1956) Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations. AMA Arch Neurol Psychiatry 75:144-62.

Silver JR (1966) Familial spastic paraplegia with amyotrophy of the hands. J Neurol Neurosurg Psychiatry 29:135-44.

Skre H (1993) Hereditary spastic paraplegia in Western Norway. Clin Gen 6:165-83.

Sutherland JM.; Vinken PJ, Bruyn GW, editors.Handbook of Clinical Neurology, vol 22, System Disorders and Atrophies, Part II. Amsterdam: North Holland, 1975; 17, Familial spastic paraplegia. p. 420-31.

Thurmon TF, Walker BA, Scott CI, Abbott MH (1971) Birth Defects Original Article Series VII 1:219-21.

Zastz M, Penha-Serrano C, Otto PA (1976) X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 13:217-22.

Fonte: Med Umich

-----------------------------------------------------------------------------------

1. Alexander, C., M. Votruba, U. E. Pesch, D. L. Thiselton, S. Mayer, A. Moore, M. Rodriguez, U. Kellner, B. Leo-Kottler, G. Auburger, S. S. Bhattacharya, and B. Wissinger. 2000. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26:211-215. [PubMed]

2. Antonicka, H., F. Sasarman, N. G. Kennaway, and E. A. Shoubridge. 2006. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum. Mol. Genet. 15:1835-1846. [PubMed]

3. Arlt, H., G. Steglich, R. Perryman, B. Guiard, W. Neupert, and T. Langer. 1998. The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease. EMBO J. 17:4837-4847. [PMC free article] [PubMed]

4. Arlt, H., R. Tauer, H. Feldmann, W. Neupert, and T. Langer. 1996. The YTA10-12-complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria. Cell 85:875-885. [PubMed]

5. Atorino, L., L. Silvestri, M. Koppen, L. Cassina, A. Ballabio, R. Marconi, T. Langer, and G. Casari. 2003. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J. Cell Biol. 163:777-787. [PMC free article] [PubMed]

6. Augustin, S., M. Nolden, S. Müller, O. Hardt, I. Arnold, and T. Langer. 2005. Characterization of peptides released from mitochondria: evidence for constant proteolysis and peptide efflux. J. Biol. Chem. 280:2691-2699. [PubMed]

7. Bieniossek, C., T. Schalch, M. Bumann, M. Meister, R. Meier, and U. Baumann. 2006. The molecular architecture of the metalloprotease FtsH. Proc. Natl. Acad. Sci. USA 103:3066-3071. [PMC free article] [PubMed]

8. Casari, G., M. De-Fusco, S. Ciarmatori, M. Zeviani, M. Mora, P. Fernandez, G. DeMichele, A. Filla, S. Cocozza, R. Marconi, A. Durr, B. Fontaine, and A. Ballabio. 1998. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983. [PubMed]

9. Chan, D. C. 2006. Mitochondria: dynamic organelles in disease, aging, and development. Cell 125:1241-1252. [PubMed]

10. Chan, D. C. 2006. Mitochondrial fusion and fission in mammals. Annu. Rev. Cell Dev. Biol. 22:79-99. [PubMed]

11. Delettre, C., G. Lenaers, J. M. Griffoin, N. Gigarel, C. Lorenzo, P. Belenguer, L. Pelloquin, J. Grosgeorge, C. Turc-Carel, E. Perret, C. Astarie-Dequeker, L. Lasquellec, B. Arnaud, B. Ducommun, J. Kaplan, and C. P. Hamel. 2000. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26:207-210. [PubMed]

12. Esser, K., B. Tursun, M. Ingenhoven, G. Michaelis, and E. Pratje. 2002. A novel two-step mechanism for removal of a mitochondrial signal sequence involves the m-AAA complex and the putative rhomboid protease Pcp1. J. Mol. Biol. 323:835-843. [PubMed]

13. Ferreirinha, F., A. Quattrini, M. Priozzi, V. Valsecchi, G. Dina, V. Broccoli, A. Auricchio, F. Piemonte, G. Tozzi, L. Gaeta, G. Casari, A. Ballabio, and E. I. Rugarli. 2004. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J. Clin. Investig. 113:231-242. [PMC free article] [PubMed]

14. Forner, F., L. J. Foster, S. Campanaro, G. Valle, and M. Mann. 2006. Quantitative proteomic comparison of rat mitochondria from muscle, heart, and liver. Mol. Cell Proteomics 5:608-619. [PubMed]

15. Hanson, P. I., and S. W. Whiteheart. 2005. AAA+ proteins: have engine, will work. Nat. Rev. Mol. Cell Biol. 6:519-529. [PubMed]

16. Ishihara, N., Y. Fujita, T. Oka, and K. Mihara. 2006. Regulation of mitochondrial morphology through proteolytic cleavage of OPA1. EMBO J. 25:2966-2977. [PMC free article] [PubMed]

17. Juhola, M. K., Z. H. Shah, L. A. Grivell, and H. T. Jacobs. 2000. The mitochondrial inner membrane AAA metalloprotease family in metazoans. FEBS Lett. 481:91-95. [PubMed]

18. Karata, K., T. Inagawa, A. J. Wilkinson, T. Tatsuta, and T. Ogura. 1999. Dissecting the role of a conserved motif (the second region of homology) in the AAA family of ATPases. Site-directed mutagenesis of the ATP-dependent protease FtsH. J. Biol. Chem. 274:26225-26232. [PubMed]

19. Korbel, D., S. Wurth, M. Kaser, and T. Langer. 2004. Membrane protein turnover by the m-AAA protease in mitochondria depends on the transmembrane domains of its subunits. EMBO Rep. 5:698-703. [PMC free article] [PubMed]

20. Kremmidiotis, G., A. E. Gardner, C. Settasatian, A. Savoia, G. R. Sutherland, and D. F. Callen. 2001. Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Genomics 76:58-65. [PubMed]

21. Kwong, J. Q., M. F. Beal, and G. Manfredi. 2006. The role of mitochondria in inherited neurodegenerative diseases. J. Neurochem. 97:1659-1675. [PubMed]

22. Leonhard, K., B. Guiard, G. Pellechia, A. Tzagoloff, W. Neupert, and T. Langer. 2000. Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface. Mol. Cell 5:629-638. [PubMed]

23. Longtine, M. S., A. McKenzie III, D. J. Demarini, N. G. Shah, A. Wach, A. Brachat, P. Philippsen, and J. R. Pringle. 1998. Additional modules for versatile and economical PCR-based gene deletion and modification in Saccharomyces cerevisiae. Yeast 14:953-961. [PubMed]

24. Mattiazzi, M., M. D'Aurelio, C. D. Gajewski, K. Martushova, M. Kiaei, M. F. Beal, and G. Manfredi. 2002. Mutated human SOD1 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice. J. Biol. Chem. 277:29626-29633. [PubMed]

25. Mootha, V. K., J. Bunkenborg, J. V. Olsen, M. Hjerrild, J. R. Wisniewski, E. Stahl, M. S. Bolouri, H. N. Ray, S. Sihag, M. Kamal, N. Patterson, E. S. Lander, and M. Mann. 2003. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell 115:629-640. [PubMed]

26. Nolden, M., S. Ehses, M. Koppen, A. Bernacchia, E. I. Rugarli, and T. Langer. 2005. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 123:277-289. [PubMed]

27. Nolden, M., B. Kisters-Woike, T. Langer, and M. Graef. 2006. Quality control of proteins in the mitochondrion. Top. Curr. Genet. 16:119-147.

28. Ogura, T., S. W. Whiteheart, and A. J. Wilkinson. 2004. Conserved arginine residues implicated in ATP hydrolysis, nucleotide-sensing, and inter-subunit interactions in AAA and AAA+ ATPases. J. Struct. Biol. 146:106-112. [PubMed]

29. Rugarli, E. I., and T. Langer. 2006. Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol. Med. 12:262-269. [PubMed]

30. Schägger, H. 2001. Blue-native gels to isolated protein complexes from mitochondria. Methods Cell Biol. 65:231-244. [PubMed]

31. Steglich, G., W. Neupert, and T. Langer. 1999. Prohibitins regulate membrane protein degradation by the m-AAA protease in mitochondria. Mol. Cell. Biol. 19:3435-3442. [PMC free article] [PubMed]

32. Suno, R., H. Niwa, D. Tsuchiya, X. Zhang, M. Yoshida, and K. Morikawa. 2006. Structure of the whole cytosolic region of ATP-dependent protease FtsH. Mol. Cell 22:575-585. [PubMed]

33. Tatsuta, T., and T. Langer.Studying proteolysis within mitochondria. Curr. Top. Gen., in press.

33a. Tatsuta, T., S. Augustin, M. Nolden, B. Friedrich, and T. Langer. m-AAA protease-driven membrane dislocation allows intermembrane cleavage by rhomboid in mitochondria. EMBOJ. in press. [PMC free article] [PubMed]

34. Taylor, R. W., and D. M. Turnbull. 2005. Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6:389-402. [PMC free article] [PubMed]

35. Wallace, D. C. 1999. Mitochondrial diseases in man and mouse. Science 283:1482-1488. [PubMed]

Fonte: Ncbi

-----------------------------------------------------------------------------------

1. Banfi, S., Bassi, M.T., Andolfi, G., Marchitiello, A., Zanotta, S., Ballabio,
A., Casari, G. and Franco, B. 1999. Identification and characterization of
AFG3L2, a novel paraplegin-related gene. Genomics 59: 51-58.

2. Online Mendelian Inheritance in Man, OMIM™. 2002. Johns Hopkins
University, Baltimore, MD. MIM Number: 604581. World Wide Web URL:
http://www.ncbi.nlm.nih.gov/omim/

3. Olstad, O.K., Gautvik, V.T., Reppe, S., Rian, E., Jemtland, R., Ohlsson, C.,
Bruland, O.S. and Gautvik, K.M. 2003. Molecular heterogeneity in human
osteosarcoma demonstrated by enriched mRNAs isolated by directional
tag PCR subtraction cloning. Anticancer Res. 23: 2201-2216.

4. Atorino, L., Silvestri, L., Koppen, M., Cassina, L., Ballabio, A., Marconi, R.,
Langer, T. and Casari, G. 2003. Loss of m-AAA protease in mitochondria
causes complex I deficiency and increased sensitivity to oxidative stress
in hereditary spastic paraplegia. J. Cell Biol. 163: 777-787.

5. Nasir, J., Frima, N., Pickard, B., Malloy, M.P., Zhan, L. and Grünewald, R.
2006. Unbalanced whole arm translocation resulting in loss of 18p in
dystonia. Mov. Disord. 21: 859-863.

6. Duvezin-Caubet, S., Koppen, M., Wagener, J., Zick, M., Israel, L.,
Bernacchia, A., Jagasia, R., Rugarli, E.I., Imhof, A., Neupert, W., Langer, T.
and Reichert, A.S. 2007. OPA1 processing reconstituted in yeast depends
on the subunit composition of the m-AAA protease in mitochondria. Mol.
Biol. Cell 18: 3582-3590.

7. Koppen, M., Metodiev, M.D., Casari, G., Rugarli, E.I. and Langer, T. 2007.
Variable and tissue-specific subunit composition of mitochondrial m-AAA
protease complexes linked to hereditary spastic paraplegia. Mol. Cell. Biol.
27: 758-767.

8. Aldridge, J.E., Horibe, T. and Hoogenraad, N.J. 2007. Discovery of genes
activated by the mitochondrial unfolded protein response (mtUPR) and
cognate promoter elements. PLoS ONE 2: e874.

9. Maltecca, F., Aghaie, A., Schroeder, D.G., Cassina, L., Taylor, B.A., Phillips,
S.J., Malaguti, M., Previtali, S., Guénet, J.L., Quattrini, A., Cox, G.A. and
Casari, G. 2008. The mitochondrial protease AFG3L2 is essential for axonal
development. J. Neurosci. 28: 2827-2836.

-----------------------------------------------------------------------------------

Koppen M., Metodiev M.D., Casari G., Rugarli E.I., Langer T. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol. Cell. Biol., 27, 758-767, 2007

Rugarli E.I., Langer T. Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol. Med., 12, 262-269, 2006.

Pirozzi M., Quattrini A., Andolfi G., Dina G., Malaguti M.C., Auricchio A., Rugarli E.I. Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J. Clin. Invest., 116, 202-208, 2006.

Nolden M., Ehses S., Koppen M., Bernacchia A., Rugarli E.I., Langer T. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell, 123, 277-289, 2005.

Claudiani P., Riano E., Errico A., Andolfi G., Rugarli E.I. Spastin subcellular localisation is regulated through usage of different translation start sites and active export from the nucleus. Exp. Cell. Res., 309, 358-369, 2005.

Schiavi E., Riano E., Heye B., Bazzicalupo P., Rugarli E.I. UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons. Eur. J. Neurosci., 21, 3291-3300, 2005.

Errico A., Claudiani P., D’Addio M., Rugarli E.I. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon, Hum. Mol. Genet.. 13, 2121-2132, 2004.

Ferreirinha F., Quattrini A., Pirozzi M., Valsecchi V., Dina G., Broccoli V., Auricchio A., Piemonte F., Tozzi G., Gaeta L., Casari G., Ballabio A., Rugarli E.I. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport, J. Clin. Invest., 113, 231-42, 2004.

Errico A., Ballabio A., Rugarli E.I. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Mol. Genet. 11, 153-163, 2002.

-----------------------------------------------------------------------------------

1 Strümpell A. Beitrage zur Pathologie des Ruckenmarks.
Archiv für Psychiatrie und Mervenkrankheiten 1880;10:676–
717.

2 Strümpell A. Ueber die hereditare spastiche Spinalparalyse.
Deutsche zeitschrift für Nervenfeilkunde 1893;4:173–88.

3 Lorrain M. Contribution a l’étude de la paraplégie spasmodique
familiale. Paris: Steinheil, 1898.

4 Pratt RTC. The genetics of neurological disorders. Oxford:
Oxford University Press, 1967:44.

5 Holmes GL, Shaywitz BA. Strümpell’s pure familial spastic
paraplegia: case study and review of the literature. J Neurol
Neurosurg Psychiatry 1977;40:1003–8.

6 Osvath K. Paralysis spinalis spastica familiaris. Deutsche
zeitschrift für Nervenfeilkunde 1968;193:287–323.

7 Bell J, Carmichael EA. On hereditary ataxia and spastic
paraplegia. Treasury of Hum an Inheritance 1939;IV:141–
281.

8 Bickerstaff ER. Hereditary spastic paraparlegia. J Neurol
Neurosurg Psychiatry 1950;13:134–45.

9 Harding AE. Hereditary pure spastic paraplegia: a clinical
and genetic study of 22 families. J Neurol Neurosurg
Psychiatry 1981;44:871–83.

10 Filla A, DeMichele G, Marconi R, et al. Prevalence of
hereditary ataxias and spastic paraplegias in Molise, a
region of Italy. J Neurol 1992;239:351–3.

11 Leone M, Bottachi E, D’Alessandro G, et al. Hereditary
ataxias and paraplegias in Valle d’Aosta, Italy: a study of
prevalence and disability. Acta Neurol Scand 1995;91:183–
7.

12 Silva MC, Coutinho P, Pinheiro CD, et al. Hereditary
ataxias and spastic paraplegias: methological aspects of a
prevalence study in Portugal. J Clin Epidemiol 1997;50:
1377–84.

13 Polo JM, Calleja J, Combarros O, et al. Hereditary ataxias
and paraplegias in Cantabria, Spain. An epidemiological
and clinical study. Brain 1991;114:855–66.

14 Sutherland JM. Familial spastic paraplegia. In: Vinken PJ,
Bruyn GW, eds. Handbook of clinical neurology. Amsterdam:
North-Holland, 1975:421–31.

15 Dürr A, Brice A, Serdaru M, et al. The phenotype of pure
autosomal dominant spastic paraplegia. Neurology 1994;44:
1274–7.

16 Polo JM, Calleja J, Combarros O, et al. Herditary pure spastic
paraplegia: a study of nine families. J Neurol Neurosurg
Psychiatry 1993;56:175–81.

17 Cartlidge NEF, Bone G. Sphincter involvement in hereditary
spastic paraplegia. Neurology 1973;23:1160–3.

18 Bruyn RPM, Scheltens PH. Hereditary spastic paraparesis
(Strümpell-Lorrain). In: de Jong JMBV, ed. Handbook of
clinical neurology. Amsterdam: Elsevier, 1991:301–17.

19 Bruyn RPM, van Dijk JG. Clinically silent dysfunction of
dorsal columns and dorsal spinocerebellar tracts in hereditary
spastic paraparesis. J Neurol Sci 1994;125:206–11.

20 Schady W, Sheard A. A quantitative study of sensory function
in hereditary spastic paraplegia. Brain 1990;113:709–
20.

21 Bushman W, Steers WD, Meythaler JM. Voiding dysfunction
in patients with spastic paraplegia: urodynamic evaluation
and response to continuous intrathecal baclofen.
Neurology and urodynamics 1993;12:163–70.

22 Opjordsmoen S, Nyberg-Hansen R. Hereditary spastic
paraplegia with neurogenic bladder disturbances and
syndactylia. Acta Neurol Scand 1980;61:35–41.

23 Schetlens P, Bruyn RPM, Hazenberg GJ. A Dutch family
with autosomal dominant pure spastic paraparesis (Strümpell’s
disease). Acta Neurol Scand 1990;82:169–73.

24 Schwarz GA, Liu CN. Hereditary (familial) spastic paraplegia.
Archives of Neurology and Psychiatry 1956;75:144–62.

25 Boustany R-MN, Fleishnick E, Alper CA, et al. The
autosomal dominant form of pure familial spastic
paraplegia: clinical findings and linkage analysis of a large
pedigree. Neurology 1987;37:910–15.

26 Harding AE, Thomas PK. Peroneal muscular atrophy with
pyramidal features. J Neurol Neurosurg Psychiatry 1984;47:
168–72.

27 Dyck PJ. Inherited neuronal degeneration and atrophy
affecting peripheral motor, sensory, and autonomic neurons.
In: Dyck PJ, Thomas PK, Lambert EH, et al, eds.
Peripheral neuropathy. 2nd ed. Philadelphia: WB Saunders,
1984:1600–55.

28 Ueyama H, Kumamoto T, Asahara K, et al. Hereditary
motor and sensory neuropathy type V with spinal cord
atrophy on magnetic resonance imaging. Eur Neurol 1993;
33:399–400.

29 Silver JR. Familial spastic paraplegia with amyotrophy of the
hands. J Neurol Neurosurg Psychiatry 1966;29:135–44.

30 Cross HE,McKusick VA. The Troyer syndrome. A recessive
form of spastic paraplegia with distal muscle wasting. Arch
Neurol 1967;16:473–85.

31 Bouchard JP, Barbeau A, Bouchard R, et al. Autosomal
recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol
Sci 1978;5:61.

32 Sutherland JM. Familial spastic paraplegia. Its relation to
mental and cardiac abnormalities. Lancet 1957;ii:169–70.

33 Harding AE. Hereditary spastic paraplegias. Semin Neurol
1993;13:333–6.

34 Wells CR, Jankovic J. Familial spastic paraparesis and deafness.
A new X-linked neurodegenerative disorder. Arch
Neurol 1986;43:943–6.

35 Arjundas G, Ramamurthi B, Chettur L. Familial spastic
paraplegia (a reveiw with four case reports). J Assoc Phyisicians
India 1971;19:653–7.

36 Pridmore S, Rao G, Abusah P. Hereditary spastic paraplegia
with dementia. Aust N Z J Psychiatry 1995;29:678–82.

37 Rothner AD, Yahr F, Yahr MD. Familial spastic paraparesis,
optic atrophy and dementia: clinical observations of
affected kindred. N Y State J Med 1976;76:756–8.

38 Webb S, Coleman D, Byrne P, et al. Autosomal dominant
hereditary spastic paraparesis with cognitive loss linked to
chromosome 2p. Brain 1998;121:601–9.

39 Heinzlef O, Paternotte C, Mahieux F, et al. Mapping of a
complicated familial spastic paraplegia to a locus SPG4 on
chromosome 2p. J Med Genet 1998;35:89–93.

40 White KD, Ince PG, Cookson M, et al. Clinical and pathological
findings in hereditary spastic paraparesis linked to
chromosome 2p. Neurology 2000 (in press).

41 Sommerfelt K, Kyllerman M, Sanner G. Hereditary spastic
paraplegia with epileptic myoclonus. Acta Neurol Scand
1991;84:157–60.

42 Webb S, Flanagan N, Callaghan N, et al. A family with spastic
paraparesis and epilepsy. Epilepsia 1997;38:495–9.

43 Yih JS,Wang S-J, Su M-S, et al. Hereditary spastic paraplegia
associated with epilepsy,mental retardation and hearing
impairment. Paraplegia 1993;31:408–11.

44 Gigli GL, Diomedi M, Bernardi G, et al. Spastic paraplegia,
epilepsy and mental retardation in several members of a
family: a novel genetic disorder. Am J Med Genet 1993;45:
711–6.

45 Skre H. Hereditary spastic paraplegia in western Norway.
Clin Genet 1974;6:165–83.

46 Kuroda S, Kazahaya Y, Otsuki S, et al. Familial spastic paraplegia
associated with epilepsy. Acta Med Okayama
1985;39:113–7.

47 Gilman S, Romanul FCA. Hereditary dystonic paraplegia
with amyotrophy and mental deficiency: clinical and
neuropathological characteristics. In: Vinken PJ, Bruyn
GW, eds. Handbook of clinical neurology. Amsterdam: North
Holland, 1975:445–65.

48 Dick AP, Stevenson CJ. Hereditary spastic paraplegia.
Report of a family with associated extrapyramidal signs.
Lancet 1953;i:921–3.

49 Sjögren T, Larsson T. Oligophrenia in combination with
congenital icthyosis and spastic disorders: a clinical and
genetic study. Acta Psychiat Neurol Scand 1957;32(suppl
113):1–112.

50 Schady W, Smith CML. Sensory neuropathy in hereditary
spastic paraplegia. J Neurol Neurosurg Psychiatry 1994;57:
693–8.

51 Cavanagh NPC, Eames RA, Galvin RJ, et al. Hereditary
sensory neuropathy with spastic paraplegia. Brain 1979;
102:79–94.

52 Khalifeh RR, Zellweger H. Hereditary sensory neuropathy
with spinal cord disease. Neurology (Minneapolis) 1963;13:
406–11.

53 Koenig RH, Spiro AJ. Hereditary spastic paraparesis with
sensory neuropathy. Dev Med Child Neurol 1970;12:576–
81.

54 Nyberg-Hansen R, Refsum S. Spastic paraparesis associated
with optic atrophy in monozygotic twins. Acta Neurol Scand
1972;48(suppl):261–3.

55 Bruyn GW, Went LN. A sex-linked heredo-degenerative
neurological disorder, associated with Leber’s optic atrophy.
J Neurol Sci 1964;1:59–80.

56 Macrae W, Stieffel J, Todorov AB. Recessive familial spastic
paraplegia with retinal degeneration. Acta Genet Med
Gemellol (Roma) 1974;23:249–52.

57 Mahloudji M, Chuke PO. Familial spastic paraplegia with
retinal degeneration. John Hopkins Med J 1968;123:142–4.

58 Tuck R, O’Neill BP, Gharib H, et al. Familial spastic
paraplegia with Kallmann’s syndrome. J Neurol Neurosurg
Psychiatry 1983;46:671–4.

59 Baxter P, Connoly S, Curtis A, et al. Co-dominant
inheritance of hyperekplexia and spastic paraparesis. Dev
Med Child Neurol 1996;38:739–43.

60 Kenwrick S, Ionasescu V, Ionasescu G, et al. Linkage studies
of X-linked recessive spastic paraplegia using DNA
probes. Hum Genet 1986;73:264–6.

61 Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic
paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus
result from mutations in the L1 gene. Nat Genet
1994;7:402–7.

62 Cross HE, McKusick VA. The Mast syndrome: a recessively
inherited form of pre-senile dementia with motor disturbances.
Arch Neurol 1967;16:1–13.

63 Kjellin K. Familial spastic paraplegia with amyotrophy,
oligophrenia and central retinal degeneration. Arch Neurol
1959;1:133–40.

64 Seri M, Cusano R, Forabosco P, et al. Genetic mapping to
10q23.3-q24.2, in a large Italian pedigree, of a new
syndrome showing bilateral cataracts, gastroesophageal
reflux, and spastic paraparesis with amyotrophy. Am J Hum
Genet 1999;64:586–93.

65 Worster-Drought C, Greenfield JG,McMenemy W. A form
of familial presenile dementia with spastic paralysis. Brain
1944;67:38–43.

66 Manson J. Hereditary spastic paraplegia with ataxia and
mental defect. BMJ 1920;ii:477.

67 Tedeschi G, Allocca S, Di Costanzo A, et al. Multisystem
involvement of the central nervous system in Strümpell’s
disease. J Neurol Sci 1991;103:55–60.

68 Cummings JL. Subcortical dementia. Br J Psychiatry 1986;
149:682–97.

69 Neary D, Snowden JS, Mann DMA, et al. Frontal lobe
dementia and motor neurone disease. J Neurol Neurosurg
Psychiatry 1990;53:23–32.

70 Claus D, Waddy HM, Harding AE, et al. Hereditary motor
and sensory neuropathies and hereditary spastic
paraplegia: a magnetic stimulation study. Ann Neurol 1990;
28:43–9.

71 Nielsen JE, Krabbe K, Jennum P, et al. Autosomal dominant
pure spastic paraplegia: a clinical, paraclinical and genetic
study. J Neurol Neurosurg Psychiatry 1998;64:61–6.

72 Pelosi L, Lanzillo B, Perretti A, et al.Motor and somatosensory
evoked potentials in hereditary spastic paraplegia. J
Neurol Neurosurg Psychiatry 1991;54:1099–102.

73 Schady W, Dick JPR, Sheard A, et al. Central motor
conduction studies in hereditary spastic paraplegia. J Neurol
Neurosurg Psychiatry 1991;54:775–9.

74 Aalfs CM, Koelman JHTM, Posthumus Meyjes FE, et al.
Posterior tibial and sural nerve somatosensory evoked
potentials: a study in spastic paraparesis and spinal cord
lesions. Electroencephalogr Clin Neurophysiol 1993;89:437–
41.

75 Mcleod JG, Morgan JA, Reye C. Electrophysiological studies
in familial spastic paraplegia. J Neurol Neurosurg
Psychiatry 1977;40:611–15.

76 Thomas PK, Jefferys JGR, Smith IS, et al. Spinal
somatosensory evoked potentials in hereditary spastic
paraplegia. J Neurol Neurosurg Psychiatry 1981;44:243–6.

77 Tyrer JH, Sutherland JM. The primary spinocerebellar atrophies
and their associated defects, with a study of the foot
deformity. Brain 1961;84:289–300.

78 Sjaastad O, Berstad J, Gjesdahl P, et al. Homocarsinosis. 2.
A familial metabolic disorder associated with spastic paraplegia,
progressive mental deficiency, and retinal pigmentation.
Acta Neurol Scand 1976;53:275–90.

79 Ormerod IEC, Harding AE, Miller DH, et al. Magnetic
resonance imaging in degenerative ataxic disorders. J Neurol
Neurosurg Psychiatry 1994;57:51–7.

80 Kramer W. Hereditary spinal spastic paraplegia (Strümpell-
Lorrain’s disease). Neuropathol Appl Neurobiol 1977;8:488–
9.

81 Schwarz GA. Hereditary (familial) spastic paraplegia. Arch
Neurol Psychiatry 1952;68:655–82.

82 Sack GH, Huether CA, Garg N. Familial spastic paraplegia:
clinical and pathological studies in a large kindred. Johns
Hopkins Med J 1978;143:117–21.

83 Bruyn RPM. The neuropathology of hereditary spastic
paraparesis. Clin Neurol Neurosurg 1992;94(supp):s16–18.

84 Behan WMH, Maia M. Strümpell’s familial spastic
paraplegia: genetics and neuropathology. J Neurol Neurosurg
Psychiatry 1974;37:8–20.

85 Kahlstorf A. Klinischer und histopathologischer Beitrag zur
hereditären spatischen Spinalparalyse. Zeitschrift für die
gesamte Neurologie und Psychiatrie 1937;159:774–80.

86 Nance MA, Raabe WA, Midani H, et al. Clinical heterogeneity
of familial spastic paraplegia linked to chromosome
2p21. Hum Hered 1998;48:169–78.

87 Matsuura T, Sasaki H, Wakisaka A, et al. Autosomal dominant
spastic paraplegia linked to chromosome 2p: clinical
and genetic studies of a large Japanese pedigree. J Neurol
Sci 1997;151:65–70.

88 Hentati A, Pericak-Vance MA, Lennon F, et al. Linkage of a
locus for autosomal dominant spstic paraplegia to chromosome
2p markers. Hum Mol Genet 1994;3:1867–71.

89 Hazan J, Fontaine B, Bruyn RPM, et al. Linkage of a new
locus for autosomal dominant familial spastic paraplegia to
chromosome 2p. Hum Mol Genet 1994;3:1569–73.

90 Lennon F, Gaskell PC, Wolpert C, et al. Linkage and
heterogeneity in hereditary spastic paraparesis. Am J Hum
Genet 1995;57(supp):A217.

91 Dürr A, Davoine C-S, von Fellengerg J, et al. Phenotype of
autosomal dominant spastic paraplegia linked to chromosome
2. Brain 1996;119:1487–96.

92 Bürger J, Metzke H, Patternote C, et al. Autosomal
dominant spastic paraplegia with anticipation maps to a
4-cM interval on chromosome 2p21-p24 in a large
German family. Hum Genet 1996;98:371–5.

93 Kobayashi H, Garcia CA, Alfonso G, et al.Molecular genetics
of familial spastic paraplegia: a multiple of responsible
genes. J Neurol Sci 1996;137:131–8.

94 Reid E, Grayson C, RogersMT, et al. Locus-phenotype correlations
in autosomal dominant pure hereditary spastic
paraplegia: a clinical and molecular genetic study of 28
United Kingdom families. Brain 1999;122:1741–55.

95 Hazan J, Lamy C, Melki J, et al. Autosomal dominant
familial spastic paraplegia is genetically heterogeneous and
one locus maps to chromosome 14q. Nat Genet 1993;5:
163–7.

96 Huang S, Zhuyu, Li H, et al. Another pedigree with pure
autosomal dominant spastic paraplegia (AD-FSP) from
Tibet mapping to 14q11.2-q24.3. Hum Genet 1997;100:
620–3.

97 Gispert S, Santos N, Damen R, et al. Autosomal dominant
familial spastic paraplegia: reduction of the FSP1 candidate
region on chromosome 14q to 7 cM and locus heterogeneity.
Am J Hum Genet 1995;56:183–7.

98 Fink JK, Wu C-tB, Jones SM, et al. Autosomal dominant
familial spastic paraplegia: tight linkage to chromosome
15q. Am J Hum Genet 1995;56:188–92.

99 Hedera P, Rainer S, Alvarado D, et al. Novel locus for autosomal
dominant hereditary spastic paraplegia, on chromosome
8q. Am J Hum Genet 1999;64:563–9.

100 Reid E, Dearlove M, Rhodes M, et al. A new locus for
autosomal dominant pure hereditary spastic paraplegia
mapping to chromosome 12q13, and evidence for further
genetic heterogeneity. Am J Hum Genet 1999;65:757–63.

101 Hazan J, Fonknechten N, Mavel D, et al. Spastin, a novel
AAA protein, is altered in the most frequent form of autosomal
dominant spastic paraplegia. Nat Genet 1999;23:
296–303.

102 Patel S, Latterich M. The AAA team: related ATPases with
diverse functions. Cell Biology 1998;8:65–71.

103 Neuwald AF, Aravind L, Spouge JL, et al. AAA: a class of
chaperone-like ATPases associated with the assembly,
operation and disassembly of protein complexes. Genome
Res 1999;9:27–43.

104 Casari G, De Fusco M, Ciarmatori S, et al. Spastic
paraplegia and OXPHOS impairment caused by mutations
in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
Cell 1998;93:973–83.

105 Confalonieri F, Duguet M. A 200-amino acid ATPase
module in search of a basic function. Bioessays 1995;17:
639–50.

106 Maciel P, Gaspar C, DeStefano AL, et al. Correlation
between CAG repeat length and clinical features
in Machado-Joseph disease. Am J Hum Genet 1995;57:54–
61.

107 Koide R, Ilkeuchi T, Onodera O, et al. Unstable expansion
of CAG repeat in hereditary dentatorubral-pallidoluysian
atrophy (DRPLA). Nat Genet 1994;6:9–13.

108 Andrew SE, Goldberg YP, Kremer B, et al. The
relationship between trinucleotide repeat (CAG) repeat
length and clinical features of Huntington’s disease. Nat
Genet 1993;4:398–403.

109 Nielsen JE, Koefoed P, Abell K, et al. CAG repeat expansion
in autosomal dominant pure spastic paraplegia linked
to chromosome 2p21-p24. Hum Mol Genet 1997;6:1811–
16.

110 Benson KF, Horwitz M, Wolff J, et al. CAG repeat expansion
in autosomal dominant familial spastic paraparesis:
novel expansion in subset of patients. Hum Mol Genet
1998;7:1779–86.

111 Trottier Y, Lutz Y, Stevanin G, et al. Polygutamine
expansion as a pathological epitope in Huntington’s
disease and four dominant cerebellar ataxias. Nature 1995;
378:403–7.

112 Reid E, Dearlove AM, Whiteford ML, et al. Autosomal
dominant spastic paraplegia. Refined SPG8 locus and
additional genetic heterogeneity. Neurology 1999;53:1845–
9.

113 Hedera P, DiMauro S, Bonilla E, et al. Phenotypic analysis
of autosomal dominant hereditary spastic paraplegia linked
to chromosome 8q. Neurology 1999;53:44–50.

114 Slavotinek AM, Pike M, Mills K, et al. Cataracts, motor
system disorder, short stature, learning difficulties, and
skeletal abnormalities: a new syndrome? Am J Med Genet
1996;62:42–7.

115 Hentati A, Pericak-Vance MA, HungW-Y, et al. Linkage of
pure autosomal recessive familial spastic paraplegia to
chromosome 8 markers and evidence of genetic locus
heterogeneity. Hum Mol Genet 1994;3:1263–7.

116 De Michele G, De Fusco M, Cavalcanti F, et al. A new
locus for autosomal recessive hereditary spastic paraplegia
maps to chromosome 16q24.3. Am J Hum Genet 1998;63:
135–9.

117 Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization
of a new locus for recessive familial spastic paraparesis
to 15q13–15. Neurology 1999;53:50–6.

118 Schapira AHV. Mitochondrial involvement in Parkinson’s
disease, Huntington’s disease, hereditary spastic paraplegia
and Freidreich’s ataxia. Biochim Biophys Acta 1999;1410:
159–70.

119 Banfi S, Bassi MT, Andolfi G, et al. Identification and
characterization of AFG3L2, a novel paraplegin-related
gene. Genomics 1999;59:51–8.

120 Shah ZH, Migliosi V, Wang A, et al. Chromosomal
locations of three human nuclear genes (RPSM12, TUFM,
and AFG3L1) specifying putative components of the mitochondrial
gene expression apparatus. Genomics 1998;48:
384–8.

121 Leube B, Rudnicki D, Ratzlaff T, et al. Idiopathic torsion
dystonia: assignment of a gene to chromosome 18p in a
German family with adult onset, autosomal dominant
inheritance and purely focal distribution. Hum Mol Genet
1996;5:1673–7.

122 Casaubon LK, Melanson M, Lopes-Cendes I. The gene
responsible for a severe form of peripheral neuropathy and
agenesis of the corpus callosum maps to chromosome 15q.
Am J Hum Genet 1996;58:28–34.

123 Keppen LD, Leppert MF, O’Connel P, et al. Etiological
heterogeneity in X-linked spastic paraplegia. Am J Hum
Genet 1987;41:933–43.

124 Bonneau D, Rozet J-M, Bulteau C, et al. X-linked spastic
paraplegia (SPG2): clinical heterogeneity at a single locus.
J Med Genet 1993;30:381–4.

125 Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic
paraplegia: evidence for homogeneity with a variable
phenotype. Clin Genet 1989;35:116–20.

126 Johnson AW,McKusick VA. A sex-linked recessive form of
spastic paraplegia. Am J Hum Genet 1962;14:83–94.

127 Kobayashi H, Hoffman EP, Marks HG. The rumpshaker
mutation in spastic paraplegia. Nat Genet 1994;7:351–2.

128 Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked
spastic paraplegia and Pelizaeus-Merzbacher disease are
allelic disorders at the proteolipid protein locus. Nat Genet
1994;6:257–61.

129 Griffiths IR, Montague P, Dickinson P. The proteolipid
protein gene. Neuropathol Appl Neurobiol 1995;21:85–96.

130 Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, et al.
Evidence of a third locus in X-linked recessive paraplegia.
Hum Genet 1997;100:287–9.

131 Hodes ME, Pratt VM, Dlouhy SR. Genetics of Pelizaeus-
Merzbacher disease. Dev Neurosci 1993;14:383–94.

132 Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic
homogeneity of Pelizaeus-Merzbacher disease: tight linkage
to the proteolipoprotein locus in 16 affected patients.
PMD clinical group. Am J Hum Genet 1994;55:461–7.

133 Cambi F, Tang X-M, Cordray P, et al. Refined genetic
mapping and proteolipid protein mutation analysis in
X-linked pure hereditary spastic paraplegia. Neurology
1996;46:1112–17.

134 Raggio JF, Thurmon TF, Anderson EE. X-linked hereditary
spastic paraplegia. J La State Med Soc 1973;125:4–6.

135 Thurmon TF, Walker BA, Scott CI, et al. Two kindreds
with a sex- linked recessive form of spastic paraplegia. Birth
Defects 1971;7:219–21.

136 Zatz M, Penha-Serrano C, Otto PA. X-linked recessive
type of pure spastic paraplegia in a large pedigree: absence
of detectable linkage to Xg. J Med Genet 1976;13:217–22.

137 Fransen E, Lemmon V, Van Camp G, et al. CRASH
syndrome: clinical spectrum of corpus callosum hypoplasia,
retardation, adducted thumbs, spastic paraparesis and
hydrocephalus due to mutations in one single gene, L1. Eur
J Hum Genet 1995;3:273–84.

138 Meyer T, Munch C, Volkel H, et al. The EAAT2 (GLT-1)
gene in motor neurone disease: absence of mutations in
amyotrophic lateral sclerosis and a point mutation in
patients with hereditary spastic paraplegia. J Neurol Neurosurg
Psychiatry 1998;65:594–6.

Fonte: Jnnp

-----------------------------------------------------------------------------------

Casari G., Rugarli E. Molecular basis of inherited spastic paraplegias. Curr Opin Genet Dev. 11:336-42, 2001.

Fink JK Advances in the hereditary spastic paraplegias. Exp Neurol. 184 Suppl 1:S106-10, 2003.

Atorino L., Silvestri L., Koppen M., Cassina L., Ballabio A., Marconi R., Langer T., and Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163: 777-787, 2003.


Fonte: lswn

Nessun commento:

Posta un commento