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
Neurobiology of Disease. 1994-11-01; 1(1-2): 79-82
DOI: 10.1006/nbdi.1994.0010

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1. Neurobiol Dis. 1994 Nov;1(1-2):79-82.

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

Stevanin G(1), Sousa PS, Cancel G, Dürr A, Dubourg O, Nicholson GA, Weissenbach
J, Jardim E, Agid Y, Cassa E, et al.

Author information:
(1)INSERM U289, Hôpital de la Salpêtrière, Paris, France.

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 the MJD candidate
region to a 3-cM interval between markers D14S280 and D14S81, permitting
positional cloning. This interval also contains the spinal 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.

DOI: 10.1006/nbdi.1994.0010
PMID: 9216989 [Indexed for MEDLINE]

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