The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q

G. Stevanin*, P. S. Sousa, G. Cancel, A. Dürr, O. Dubourg, G. A. Nicholson, J. Weissenbach, E. Jardim, Y. Agid, E. Cassa, A. Brice

*Corresponding author for this work

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder in families of Portuguese-Azorean ancestry. The gene responsible for MJD has been assigned to a 29-cM interval on chromosome 14q. A large Brazilian family with MJD was genotyped with six new microsatellite markers spanning 19 cM on chromosome 14q. Linkage analysis and haplotype reconstruction reduced theMJDcandidate region to a 3-cM interval between markers D14S280 and D14S81, permitting positional cloning. This interval also contains thespinal cerebellar ataxia 3(SCA3) gene, responsible for a genetic subtype of the type I autosomal dominant cerebellar ataxias, clinically related to MJD. This result supports the hypothesis that abnormalities in the same gene may be responsible for both disorders. The minor clinical differences between the two diseases may result from allelic heterogeneity.

Original languageEnglish
Pages (from-to)79-82
Number of pages4
JournalNeurobiology of Disease
Volume1
Issue number1-2
DOIs
Publication statusPublished - Nov 1994
Externally publishedYes

Keywords

  • autosomal dominant cerebellar ataxia type I
  • chromosome 14
  • linkage analysis
  • Machado-Joseph disease
  • microsatellite
  • spinal cerebellar ataxia 3

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    Stevanin, G., Sousa, P. S., Cancel, G., Dürr, A., Dubourg, O., Nicholson, G. A., ... Brice, A. (1994). The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. Neurobiology of Disease, 1(1-2), 79-82. https://doi.org/10.1006/nbdi.1994.0010