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From the Centre for Research in Neurosciences (I. Silveira, P. Maciel, C. Gaspar, and Drs. Lopes-Cendes and Rouleau), McGill University and The Montreal General Hospital Research Institute, Montreal, Quebec, Canada; UnIGENe, IBMC, Universidade do Porto (I. Silveira, P. Maciel, C. Gaspar, and Drs. Coutinho and Sequeiros), Porto, Portugal; Neurogenetics Unit (Drs. Lopes-Cendes and Andermann), Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada; Human Neurochemical Pathology Laboratory (Dr. Kish), Clarke Institute of Psychiatry, Toronto, Ontario, Canada; Departamento de Neurologia (Dr. Coutinho), Hospital de Santo Antonio, Porto, Portugal; Department of Neurology (Dr. Botez), Hotel Dieu de Montreal, Montreal, Quebec, Canada; Sociedade Paranaense de Ciencias Neurologicas (Drs. Teive and Arruda), Curitiba, PR, Brasil; Departamento de Genetica Medica (Drs. Steiner and Pinto-Junior) and Departamento de Neurologia (Dr. Maciel), FCM-UNICAMP, Campinas, SP, Brasil; Department of Neurology (Dr. Jain), Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India; Center for Medical Genetics (Dr. Sack), The Johns Hopkins Hospital, Baltimore, MD; Neurology Division (Dr. Sudarsky), Brigham and Women's Hospital, West Roxbury, MA; Department of Neurology (Dr. Rosenberg), University of Texas Southwestern Medical Center, Dallas, TX; Section of Genetics (Dr. MacLeod), Department of Laboratory Medicine, Victoria General Hospital, Victoria, British Columbia, Canada; Division of Clinical Genetics (Dr. Chitayat, and R. Babul), The Hospital for Sick Children, Toronto, Ontario, Canada; and Laboratorio de Genetica Medica (Dr. Sequeiros), ICBAS, Universidade do Porto, Porto, Portugal.
Supported by the joint program FRSQ-ACAF (Fonds de la Recherche en Sante du Quebec and Association Canadienne de l'Ataxie de Friedreich), the NIH (grant NS 31687), and the Network of Centres of Excellence (Canadian Genetic Disease Network). I.S., P.M., and C.G. are recipients of a scholarship from JNICT (Junta Nacional de Investigacao Cientifica e Tecnologica), Portugal; I.L.-C. is supported by a fellowship from the Savoy Foundation for Epilepsy; S.K. is supported by NINDS #26634; and G.A.R. is supported by the Medical Research Council of Canada and Fonds de la Recherche en Sante du Quebec.
Received March 7, 1995. Accepted in final form May 20, 1995.
Address correspondence and reprint requests to Dr Rouleau, Room L7-224, Montreal General Hospital, 1650 Cedar Ave, Montreal, Quebec, Canada, H3G 1A4.
Article abstract-The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders varying in both clinical manifestations and mode of inheritance. Six different genes causing autosomal dominant SCA are mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA type 1 (SCA1), MJD, and DRPLA. We determined the frequency of the SCA1, DRPLA, and MJD mutations in a large group of unrelated SCA patients with various patterns of inheritance and different ethnic backgrounds. We studied 92 unrelated SCA patients. The frequency of the SCA1 mutation was 3% in the overall patient group and 10% in the non-Portuguese dominantly inherited SCA subgroup. We found the DRPLA mutation in only one Japanese patient, who was previously diagnosed with this disease. We identified the MJD mutation in 41% of the overall patient group, which included 38 autosomal dominant kindreds of Portuguese origin; the frequency of the MJD mutation among the non-Portuguese dominantly inherited cases was 17%. These results suggest that SCA may be occasionally caused by the SCA1 mutation and rarely caused by the DRPLA mutation and that, to date, the MJD mutation seems to be the most common cause of dominantly inherited SCA. Finally, our results suggest that recessively inherited cases of SCA are not caused by the known trinucleotide repeat expansions.
NEUROLOGY 1996;46: 214-218
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