Chapter 9 Hereditary Ataxias and Spastic Parapareses in Northeastern Canada

Blue Books of Neurology

Volumn 31, Issue C, 2007, Pages 222-243

  Bouchard, Jean Pierre ^a   Brais, Bernard ^a   Dupré, Nicolas ^a   Rouleau, Guy A ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77957148836     PISSN: 1877184X     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1877-184X(09)70083-8     Document Type: Article

References (51)

1. Bouchard G., and De Braekeleer M. Histoire d'un Génôme. (1991), Presses de l'Université du Québec, Québec
2. Theriault R., and L'Acadie. 1604-2004. Cap-aux-diamants: la revue d'histoire du Québec 77 (2004) 10-14
3. Rahman P., et al. The Newfoundland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet 12 (2003) 167-172
4. Barbeau A. Distribution of ataxia in Quebec. In: Sobue I. (Ed). Spinocerebellar Degenerations (1978), Japanese Medical Research Foundation, Tokyo 121-142
5. De Braekeleer M., et al. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol 10 (1993) 17-25
6. Bouchard J.P., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromusc Disord 8 (1998) 474-479
7. Bouchard J.P., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 5 (1978) 61-69
8. Bouchard R.W., et al. Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Can J Neurol Sci 6 (1979) 191-194
9. Bouchard J.P., et al. Autosomal recessive spastic ataxia (Charlevoix-Saguenay). In: Klockgether T. (Ed). Handbook of Ataxia Disorders (2000), Marcel Dekker, Inc., New York, Basel 311-324
10. Bouchard J.P. Recessive spastic ataxia of Charlevoix-Saguenay. In: de Jonghe J.M.B.V. (Ed). Hereditary Neuropathies and Spinocerebellar Atrophies 16 (1991), Elsevier Science Publisher, Amsterdam 451-459
11. Peyronnard J.M., Charron L., and Barbeau A. The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study. Can J Neurol Sci 6 (1979) 199-203
12. DeLéan J., Mathieu J., and Bouchard J.P. Central pathway conduction in recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 16 (1989) 272
13. Dionne J., et al. Oculomotor and vestibular findings in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 6 (1979) 177-184
14. Richter A., et al. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet 64 (1999) 768-775
15. Engert J.C., et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24 (2000) 120-125
16. Mercier J., et al. Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genet Test 5 (2001) 255-259
17. Kamionka M., and Feigon J. Structure of the XPC binding domain of hHR23A reveals hydrophobic patches for protein interaction. Protein Sci 13 (2004) 2370-2377
18. Grynberg M., Erlandsen H., and Godzik A. HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins. Trends Biochem Sci 28 (2003) 224-226
19. Richter A.M., et al. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 5 (2004) 165-170
20. Hara K., et al. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan. Mov Disord 20 (2005) 380-382
21. Ogawa T., et al. Identification of a SACS gene missense mutation in ARSACS. Neurology 62 (2004) 107-109
22. Gucuyener K., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families. Neuropediatrics 32 (2001) 142-146
23. El Euch-Fayache G., et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 60 (2003) 982-988
24. Mrissa N., et al. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 54 (2000) 1408-1414
25. Chaigne D., et al. Lataxie spastique autosomique recessive: etudes clinique, neurophysiologique, ophtalmologique et IRM de 2 cas familiaux. Rev Neurol 149 (1993) 585
26. Grieco G.S., et al. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 62 (2004) 103-106
27. Criscuolo C., et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 62 (2004) 100-102
28. Pascual-Castroviejo I., et al. [Charlevoix-Saguenay type recessive spastic ataxia: a report of a Spanish case]. Rev Neurol 31 (2000) 36-38
29. Lamy C., et al. Ataxie spastique récessive de type Charlevoix-Saguenay dans une famille marocaine. Rev Neurol 154 (1998) 463
30. Richter A. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS/SACS)-No longer a local disease. In: Pulst S.M. (Ed). Genetics of Movement Disorders (2003), Elsevier Science, San Diego 189-193
31. Alper G., and Narayanan V. Friedreich's ataxia. Pediatr Neurol 28 (2003) 335-341
32. Cavalier L., et al. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 62 (1998) 301-310
33. Meijer I.A., et al. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am J Hum Genet 70 (2002) 763-769
34. Grewal K.K., et al. A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy. Am J Med Genet 131A (2004) 249-254
35. Bouchard M., and Langlois G. Orthopedic management in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Surg 42 (1999) 440-444
36. Grewal K.K., et al. Evidence for a common ancestor in two large families with phenotypically variable spastic ataxia. Am J Hum Genet 69 Suppl (2001) 277
37. Malhoudji M. Hereditary spastic ataxia simulating disseminated sclerosis. J Neurol Neurosurg Psychiatry 26 (1963) 511-513
38. Gayle R.F., and Williams J.P. A familial disease of the central nervous system resembling multiple sclerosis. South Med J 26 (1933) 242-246
39. Dupré N., et al. Recessive ataxia of the Beauce, a new form of hereditary ataxia of pure cerebellar type. Neurology 58 Suppl 3 (2002) A35
40. Valdmanis P.N., et al. A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. J Med Genet 41 (2004) 634-639
41. Meijer I.A., et al. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 59 (2002) 281-286
42. Hazan J., et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 5 (1993) 163-167
43. Reid E., et al. Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia. J Med Genet 36 (1999) 797-798
44. Hentati A., et al. Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 3 (1994) 1867-1871
45. Nielsen J.E., et al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet 6 (1997) 1811 1186
46. Errico A., Ballabio A., and Rugarli E.I. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11 (2002) 153-163
47. Simoes Lopes A., et al. Further evidence of linkage between adult-onset autosomal dominant leukodystrophy and chromosome 5q23. Am J Hum Genet 73 Suppl 5 (2002) 471
48. Verreault S., et al. A kindred of hereditary adult-onset autosomal dominant leukodystrophy in Charlevoix, Quebec. Can J Neurol Sci 29 Suppl 1 (2002) S57
49. Brown R.T., et al. Adrenergic dysfunction in hereditary adult-onset leukodystrophy. Neurology 37 (1987) 1421-1424
50. Eldridge R., et al. Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N Engl J Med 311 (1984) 948-953
51. Scriver C.R. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2 (2001) 69-101