(mentions HMSN) Hereditary ataxias, spastic parapareses and neuropathies in East

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Rev Neurol (Paris). 2008 Jan;164(1):12-21. Epub 2008 Jan 25.

Hereditary ataxias, spastic parapareses and neuropathies in Eastern

Canada

Dupré N, Chrestian N, Thiffault I, Brais B, Rouleau GA, Bouchard JP.

Département des sciences neurologiques, faculté de médecine de

l'université Laval, hôpital Enfant-Jésus, CHAU de Québec, 1401, 18(e)

rue, G1J 1Z4 Québec, 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.