Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.
Historical events have shaped the various regional gene pools of the French-Canadian (FC) population, leading to increased prevalence of some rare diseases. The first studies of these founder effects were performed in large part by astute clinicians such as André Barbeau. In collaboration with others, he contributed greatly to the delineation of phenotypic subtypes of these conditions. As such, the following neurogenetic disorders were first identified in patients of FC origin: AOA2, ARSACS, HSAN2, RAB, and HMSN/ACC. We have summarized our current knowledge of the main hereditary ataxias, spastic parapareses and neuropathies that are particular to the FC population. The initial genetic characterization of the more common and homogeneous of these diseases has been largely completed. We predict that the regional populations of Canada will allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies, and contribute to the unravelling of the genetic basis of these entities.
Dupré
Nicolas
N
Department of Neurological Sciences, CHAUQ-Enfant-Jésus, Quebec City, QC, Canada.
Bouchard
Jean-Pierre
JP
Brais
Bernard
B
Rouleau
Guy A
GA
D002490:Central Nervous System / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002874:Chromosome Mapping / Q000639:trends; D004252:DNA Mutational Analysis / Q000639:trends; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing / Q000639:trends; D006801:Humans; D009509:New Brunswick / Q000453:epidemiology / Q000208:ethnology; D020336:Paraparesis, Spastic / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D011792:Quebec / Q000453:epidemiology / Q000208:ethnology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*