Document Detail

Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.
MedLine Citation:
PMID:  7633439     Owner:  NLM     Status:  MEDLINE    
Machado--Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease. We have analyzed 90 MJD individuals from 62 independent MJD families and found that the MJD1 repeat length is inversely correlated with the age of onset (r = -0.87). The MJD chromosomes contained 61-84 repeat units, whereas normal chromosomes displayed 14-34 repeats. In the normal chromosomes, 14 repeat units were the most common and the shortest. In association with the clinical anticipation of the disease, a parent--child analysis showed the unidirectional expansion of CAG repeats and no case of diminution in the affected family. The differences in CAG repeat length between parent and child and between siblings are greater in paternal transmission than in maternal transmission. Detailed analysis revealed that a large degree of expansion was associated with a shorter length of MJD1 gene in paternal transmission. On the other hand, the increments of increase were similar for shorter and longer expansion in maternal transmission. Among the three clinical subtypes, type I of MJD, with dystonia, showed a larger degree of expansion in CAG repeats of the gene and younger ages of onset than the other types.
H Maruyama; S Nakamura; Z Matsuyama; T Sakai; M Doyu; G Sobue; M Seto; M Tsujihata; T Oh-i; T Nishio
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  4     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1995 May 
Date Detail:
Created Date:  1995-09-14     Completed Date:  1995-09-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  807-12     Citation Subset:  IM    
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
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MeSH Terms
Age of Onset
Base Sequence
Chromosomes, Human, Pair 14
DNA Primers / genetics
Machado-Joseph Disease / classification,  genetics*
Middle Aged
Minisatellite Repeats
Molecular Sequence Data
Oligodeoxyribonucleotides / genetics
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid*
Reg. No./Substance:
0/DNA Primers; 0/Oligodeoxyribonucleotides

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