Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix‐Saguenay in northeastern Quebec
作者:
M. De Braekeleer,
F. Giasson,
J. Mathieu,
M. Roy,
J. P. Bouchard,
K. Morgan,
期刊:
Genetic Epidemiology
(WILEY Available online 1993)
卷期:
Volume 10,
issue 1
页码: 17-25
ISSN:0741-0395
年代: 1993
DOI:10.1002/gepi.1370100103
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: French Canadians;population genetics;geographical distribution;genealogy;incidence;kinship;inbreeding
数据来源: WILEY
摘要:
AbstractAutosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay‐Lac‐St‐Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were estimated at 1/1,932 liveborn infants and 1/22 inhabitants, respectively, for the period 1941‐‐1985. The mean inbreeding coefficient was twice higher and the mean kinship coefficient 3 times higher among the ARSACS families than among control families. In the SLSJ region, the birth places of the ARSACS individuals and their parents did not show a clustered distribution. The genealogical reconstruction suggests that the high incidence of ARSACS in SLSJ and Charlevoix is likely to be the result of a founder effect. Because the disease is apparently unknown elsewhere in the world and a high proportion of French Canadians presently living in eastern Quebec have ancestors coming from Perche, a small region in France, it also suggests that a unique mutation accounts for most, if not all, of the ARSACS cases known in these regions. © 1993 Wil
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