Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus

Journal Article · Sun May 01 04:00:00 EDT 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1257· OSTI ID:7029849

Lopes-Cendes, I ^[1]; Andermann, E ^[2]; Rouleau, G A ^[3]

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1. Montreal General Hospital Research Institute, Quebec (Canada) Montreal Neurological Institute and Hospital, Quebec (Canada) McGill Univ., Quebec (Canada)
2. Montreal Neurological Institute and Hospital, Quebec (Canada) McGill Univ., Quebec (Canada)
3. Montreal General Hospital Research Institute, Quebec (Canada) Montreal Neurological Institute and Hospital, Quebec (Canada)

The autosomal dominantly inherited spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders. To date, three loci have been identified: The SCA1 locus (on chr 6p), the SCA2 locus (on chr 12q), and more recently a Machado-Joseph disease (MJD) locus (on chr 14q). The authors have studied one large French-Canadian kindred with four generations of living affected individuals segregating an autosomal dominant form of SCA. Linkage analysis using anonymous DNA markers that flank the three previously described loci significantly exclude the French-Canadian kindred from the SCA1, SCA2, and MJD loci. Therefore, a fourth, still unmapped SCA locus remains to be identified. In addition, the unique clinical phenotype present in all affected individuals of the French-Canadian kindred might be characteristic of this still unmapped SCA locus. 34 refs., 2 figs., 2 tabs.

• OSTI ID: 7029849
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 21:1; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CENTRAL NERVOUS SYSTEM
CHROMOSOMES
DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
HUMAN CHROMOSOME 14
HUMAN CHROMOSOME 6
HUMAN CHROMOSOMES
MAPPING
NERVOUS SYSTEM
NERVOUS SYSTEM DISEASES