The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1)

Wendy J. Carson, Joao Radvany, Lindsay A. Farrer, Dominique Vincent, Roger N. Rosenberg, Patrick M. MacLeod, Guy A. Rouleau

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative spinocerebellar ataxia that has been described primarily in families of Azorean or Protuguese 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.

Original languageEnglish (US)
Pages (from-to)852-855
Number of pages4
JournalGenomics
Volume13
Issue number3
DOIs
StatePublished - Jul 1992

ASJC Scopus subject areas

  • Genetics

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