Bibliografía del artículo
1. Fink JK. The hereditary spastic paraplegias: nine genes and counting. Arch Neurol 2003; 60(8):1045-1049.
2. Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 2003; 40(2):81-86.
3. Al-Yahyaee S, Al-Gazali LI, De Jonghe P, et al. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 2006; 66(8):1230-1234.
4. Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999; 23(3):296-303.
5. Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001; 29(3):326-331.
6. 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(4):967-971.
7. Reid E, Kloos M, Ashley-Koch A, et al. A kinesin heavy chain
(KIF5A) mutation in hereditary spastic paraplegia
(SPG10). Am J Hum Genet 2002; 71(5):1189-1194.
8. Hansen JJ, Durr A, Cournu-Rebeix I, et al. Hereditary spastic paraplegia
SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002; 70(5):1328-1332.
9. Van de Warrenburg BP, Scheffer H, Van Eijk JJ, et al.
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord 2006; 16(2):122-125.
10. Magre J, Delepine M, Khallouf E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001; 28(4):365-370.
11. Zuchner S, Wang G, Tran-Viet KN, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 2006; 79(2):365-9.
12. Mannan AU, Krawen P, Sauter SM, et al. ZFYVE27
(SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet 2006; 79(2):351-357.
13. Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. Spectrum of
SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 2002; 59(2):281-286.
14. Orlacchio A, Gaudiello F, Totaro A, et al. A new
SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 2004; 62(10):1875-1878.
15. Orlacchio A, Kawarai T, Gaudiello F, et al. Clinical and genetic study of a large
SPG4 Italian family. Mov Disord 2005; 20(8):1055-1059.
16. Higgins JJ, Loveless JM, Goswami S, et al. An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia. Neurology 2001; 56(11):1482-1485.
17. Starling A, Rocco P, Passos-Bueno MR, Hazan J, Marie SK, Zatz M. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus
SPG4 affects almost exclusively males in a large pedigree. J Med Genet 2002; 39(12):e77.
18. Orlacchio A, Kawarai T, Totaro A, et al. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 2004; 61(6):849-55.
19. Charvin D, Cifuentes-Diaz C, Fonknechten N, et al. Mutations of
SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet 2003; 12(1):71-78.
20. 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(2):153-163.
21. Tallaksen CM, Guichart-Gomez E, Verpillat P, et al. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 2003; 60(8):1113-1118.
22. McMonagle P, Byrne P, Hutchinson M. Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology 2004; 62(3):407-410.
23. Winner B, Uyanik G, Gross C, et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11
(SPG11). Arch Neurol 2004; 61(1):117-121.
24. 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(3):423-429.
25. Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 2000; 8(1):4-18.
26. Orlacchio A, Kawarai T, Rogaeva E, et al. Clinical and genetic study of a large Italian family linked to
SPG12 locus. Neurology 2002; 59(9):1395-1401.
27. 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(2):728-732.
28. Ashley-Koch A, Bonner ER, Gaskell PC, et al. Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. Neurogenetics 2001; 3(2):91-97.
29. Kaneko S, Kawarai T, Yip E, et al. Novel
SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. Mov Disord 2006
30. Reed JA, Wilkinson PA, Patel H, et al. A novel
NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 2005; 6(2):79-84.
31. Chen S, Song C, Guo H, et al. 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(2):135-141.
32. Munhoz RP, Kawarai T, Teive HA, et al. Clinical and genetic study of a Brazilian family with spastic paraplegia
(SPG6 locus). Mov Disord 2006; 21(2):279-281.
33. Matsui M, Kawarai T, Hase Y, et al. Novel mutation in
SPG3A gene (atlastin) in hereditary spastic paraplegia. Journal of Neurology 2006.
34. Durr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004; 61(12):1867-1872.
35. Sauter S, Miterski B, Klimpe S, et al. Mutation analysis of the spastin gene
(SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 2002; 20(2):127-132.
36. Hentati A, Deng HX, Zhai H, et al. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology 2000; 55(9):1388-1390.
37. Proukakis C, Auer-Grumbach M, Wagner K, et al. Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the
SPG4 (Spastin) gene. Hum Mutat 2003; 21(2):170.
38. Fonknechten N, Mavel D, Byrne P, et al. Spectrum of
SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000; 9(4):637-644.
39. Magariello A, Muglia M, Patitucci A, et al. Novel spastin
(SPG4) mutations in Italian patients with hereditary spastic paraplegia. Neuromuscul Disord 2006; 16(6):387-390.
40. Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Novel mutations in the Atlastin gene
(SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the
SPG3A locus. Hum Mutat 2004; 23(1):98.
41. Namekawa M, Ribai P, Nelson I, et al.
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 2006; 66(1):112-114.
42. St George-Hyslop PH, Petit A. Molecular biology and genetics of Alzheimer's disease. C R Biol 2005; 328(2):119-130.
43. Pallanck L, Greenamyre JT. Neurodegenerative disease: pink, parkin and the brain. Nature 2006; 441(7097):1058.
44. Majoor-Krakauer D, Willems PJ, Hofman A. Genetic epidemiology of amyotrophic lateral sclerosis. Clin Genet 2003; 63(2):83-101.
45. Rogaeva E, Bergeron C, Sato C, et al. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Neurology 2003; 61(7):1005-1007.
46. Panzeri C, De Palma C, Martinuzzi A, et al. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain 2006; 129(Pt 7):1710-1719.
47. Devon RS, Helm JR, Rouleau GA, et al. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet 2003; 64(3):210-215.
48. Lesca G, Eymard-Pierre E, Santorelli FM, et al. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003; 60(4):674-682.
49. Eymard-Pierre E, Lesca G, Dollet S, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002; 71(3):518-527.