Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix‐Saguenay in northeastern Quebec
- 1 January 1993
- journal article
- research article
- Published by Wiley in Genetic Epidemiology
- Vol. 10 (1), 17-25
- https://doi.org/10.1002/gepi.1370100103
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. © 1993 Wiley-Liss. Inc.Keywords
This publication has 16 references indexed in Scilit:
- La première génération de Saguenayens : provenance, apparentement, enracinementCahiers québécois de démographie, 2008
- Genetic epidemiology of cystic fibrosis in Saguenay‐Lac‐St‐Jean (Quebec, Canada)Clinical Genetics, 1991
- Population genetics of vitamin D‐dependent rickets in northeastern QuebecAnnals of Human Genetics, 1991
- Founder Effect in Familial Hyperchylomicronemia among French Canadians of QuebecHuman Heredity, 1991
- New type of spinocerebellar degeneration syndrome in a northern Swedish populationClinical Genetics, 1987
- Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs: Report of a Bedouin family - A new syndromeJournal of the Neurological Sciences, 1986
- Oculomotor and Vestibular Findings in Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanadian Journal of Neurological Sciences, 1979
- The Neuropathy of Charlevoix-Saguenay Ataxia: An Electrophysiological and Pathological StudyCanadian Journal of Neurological Sciences, 1979
- The Troyer SyndromeArchives of Neurology, 1967
- ON HEREDITARY ATAXY, WITH A SERIES OF TWENTY-ONE CASESBrain, 1892