[Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada].
It has been demonstrated, for many inherited diseases, that historical events have shaped the various regional gene pools of Eastern Canada. In so doing, it has given rise to the increased prevalence of some rare diseases due, to founder effects. The following neurogenetic disorders were first identified in patients from Eastern Canada: AOA-2, Arsacs, HSN-2, Arca-1, HMSN/ACC and Arsal. The population of Eastern Canada, we are convinced, will still allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies as well as contribute to the uncovering of their mutated genes. We have summarized our current knowledge of the various hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada. The study of the more common and homogenous features of these diseases has been largely completed.
Dupré
N
N
Département des sciences neurologiques, faculté de médecine de l'université Laval, hôpital Enfant-Jésus, CHAU de Québec, 1401, 18e rue, G1J 1Z4 Québec, Canada. nicdupre@aol.com
Chrestian
N
N
Thiffault
I
I
Brais
B
B
Rouleau
G A
GA
Bouchard
J-P
JP
D002170:Canada / Q000453:epidemiology; D015417:Hereditary Sensory and Motor Neuropathy / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D020336:Paraparesis, Spastic / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology