Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. De Braekeleer, M.; Giasson, F.; Mathieu, J.; Roy, M.; Bouchard, J., P.; and Morgan, K. Genet Epidemiol, 10(1):17-25, 1993.
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec [link]Website  abstract   bibtex   
Autosomal 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.
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 title = {Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec},
 type = {article},
 year = {1993},
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 keywords = {Consanguinity,Genes, Recessive,Heterozygote,Humans,Incidence,Muscle Spasticity/*epidemiology/*genetics,Quebec/epidemiology,Research Support, Non-U.S. Gov't,Spinocerebellar Degenerations/*epidemiology/*genet},
 pages = {17-25},
 volume = {10},
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 abstract = {Autosomal 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.},
 bibtype = {article},
 author = {De Braekeleer, M and Giasson, F and Mathieu, J and Roy, M and Bouchard, J P and Morgan, K},
 journal = {Genet Epidemiol},
 number = {1}
}
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