title: Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.
abstract: The autosomal dominant spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of neurodegenerative diseases. To date, two SCA loci have been identified-one locus (SCA-1) on the short arm of chromosome 6 and the second locus (SCA-2) on the long arm of chromosome 12. We have studied two large kindreds from different ethnic backgrounds, segregating an autosomal dominant form of SCA. A total of 207 living individuals, including 50 affected, were examined, and blood was collected. We performed linkage analysis using anonymous DNA markers which flank the two previously described loci. Our results demonstrate that the two kindreds, one Austrian-Canadian and one French-Canadian, are linked to SCA-2 (chromosome 12q). Multipoint linkage analysis places the SCA-2 locus within a region of approximately 16 cM between the microsatellites D12S58 and D12S84/D12S105 (odds ratio 2,371:1 in favor of this position). We show that the SCA-2 locus is not a private gene and represents an alternative SCA locus.
authors.affiliation: Centre for Research in Neuroscience, Montreal General Hospital Research Institute, Quebec, Canada.
authors.forename: I
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: E
authors.initials: E
authors.lastname: Attig
authors.forename: F
authors.initials: F
authors.lastname: Cendes
authors.forename: S
authors.initials: S
authors.lastname: Bosch
authors.forename: M
authors.initials: M
authors.lastname: Wagner
authors.forename: F
authors.initials: F
authors.lastname: Gerstenbrand
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D001317:Austria / Q000208:ethnology; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000097:blood; D005190:Family; D005260:Female; D005602:France / Q000208:ethnology; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011336:Probability; D012525:Saskatchewan; D012984:Software; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000503:physiopathology
chemical_list: D004247:DNA