title: The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).
abstract: Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative spinocerebellar ataxia that has been described primarily in families of Azorean or Portuguese descent. MJD and chromosome 6p-linked spinocerebellar ataxia (SCA1) are difficult to differentiate clinically, and it has been suggested that they may be allelic variants of the same disorder. We have tested MJD families for linkage to six DNA sequence polymorphisms located on chromosome 6p, including the highly informative dinucleotide repeat, D6S89. Seventeen centimorgans telomeric to and 41 cM centromeric to D6S89, a region that includes the SCA1 locus reported to be within 3 cM of D6S89, have been excluded. These data provide conclusive evidence that MJD and SCA1 are nonallelic.
authors.affiliation: Center for Research in Neuroscience, McGill University, Montreal, Quebec, Canada.
authors.forename: W J
authors.initials: WJ
authors.lastname: Carson
authors.forename: J
authors.initials: J
authors.lastname: Radvany
authors.forename: L A
authors.initials: LA
authors.lastname: Farrer
authors.forename: D
authors.initials: D
authors.lastname: Vincent
authors.forename: R N
authors.initials: RN
authors.lastname: Rosenberg
authors.forename: P M
authors.initials: PM
authors.lastname: MacLeod
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000483:Alleles; D002896:Chromosomes, Human, Pair 6; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000235:genetics*
chemical_list: D005819:Genetic Markers