Dupré Nicolas, Bouchard Jean-Pierre, Brais Bernard, Rouleau Guy A
Department of Neurological Sciences, CHAUQ-Enfant-Jésus, Quebec City, QC, Canada.
Can J Neurol Sci. 2006 May;33(2):149-57. doi: 10.1017/s031716710000490x.
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.
历史事件塑造了法裔加拿大（FC）人群的各种区域基因库，导致一些罕见疾病的患病率增加。对这些奠基者效应的最初研究很大程度上是由像安德烈·巴博这样敏锐的临床医生进行的。他与其他人合作，为这些病症的表型亚型的描述做出了巨大贡献。因此，以下神经遗传疾病最初是在FC血统的患者中发现的：AOA2、ARSACS、HSAN2、RAB和HMSN/ACC。我们总结了目前对FC人群特有的主要遗传性共济失调、痉挛性截瘫和神经病变的认识。这些疾病中较常见且同质化的疾病的初步基因特征描述已基本完成。我们预测，加拿大的区域人群将有助于识别遗传性共济失调、痉挛性截瘫和神经病变的新的罕见形式，并有助于揭示这些疾病的遗传基础。
