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. 1994 Jul;55(1):120-5.

Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14

P St George-Hyslop  1 , E Rogaeva, J Huterer, T Tsuda, J Santos, J L Haines, K Schlumpf, E I Rogaev, Y Liang, D R McLachlan, et al.
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Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14

P St George-Hyslop et al. Am J Hum Genet. 1994 Jul.

Abstract

A locus for Machado-Joseph disease (MJD) has recently been mapped to a 30-cM region of chromosome 14q in five pedigrees of Japanese descent. MJD is a clinically pleomorphic neurodegenerative disease that was originally described in subjects of Azorean descent. In light of the nonallelic heterogeneity in other inherited spinocerebellar ataxias, we were interested to determine if the MJD phenotype in Japanese and Azorean pedigrees arose from mutations at the same locus. We provide evidence that MJD in five pedigrees of Azorean descent is also linked to chromosome 14q in an 18-cM region between the markers D14S67 and AACT (multipoint lod score +7.00 near D14S81). We also report molecular evidence for homozygosity at the MJD locus in an MJD-affected subject with severe, early-onset symptoms. These observations confirm the initial report of linkage of MJD to chromosome 14; suggest that MJD in Japanese and Azorean subjects may represent allelic or identical mutations at the same locus; and provide one possible explanation (MJD gene dosage) for the observed phenotypic heterogeneity in this disease.

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References

    1. Neurology. 1972 Jan;22(1):49-55 - PubMed
    1. Genomics. 1993 Sep;17(3):556-9 - PubMed
    1. Ann Neurol. 1983 Nov;14(5):585-7 - PubMed
    1. Can J Neurol Sci. 1984 Nov;11(4 Suppl):510-25 - PubMed
    1. Comput Biomed Res. 1985 Feb;18(1):24-36 - PubMed

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