Document Detail

Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease.
MedLine Citation:
PMID:  9506544     Owner:  NLM     Status:  MEDLINE    
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia associated to varying degrees with pyramidal signs, extrapyramidal signs, or peripheral amyotrophy. It is caused by unstable expansion of the CAG repeat in the MJD1 gene on chromosome 14q32.1. To determine how the neurodegenerative process in the central nervous system of patients with MJD correlates with the size of expanded CAG repeats in the MJD1 gene and other factors, we performed detailed quantitative analyses of findings of magnetic resonance imaging of the central nervous system of 21 patients with MJD of various ages and with various sizes of expanded CAG repeats. We found that atrophy of the brainstem and cerebellar vermis in MJD patients is closely correlated not only with the size of expanded CAG repeat in the MJD1 gene but also with patient age, which suggests that the neurodegenerative process in MJD is regulated by the size of expanded CAG repeats as well as by the patient age.
O Onodera; J Idezuka; S Igarashi; Y Takiyama; K Endo; H Takano; M Oyake; H Tanaka; T Inuzuka; T Hayashi; T Yuasa; J Ito; T Miyatake; S Tsuji
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of neurology     Volume:  43     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1998 Mar 
Date Detail:
Created Date:  1998-04-10     Completed Date:  1998-04-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  288-96     Citation Subset:  IM    
Department of Neurology, Brain Research Institute, Niigata University, Japan.
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MeSH Terms
Aging / physiology*
Brain Stem / pathology*
Cerebellum / pathology*
Machado-Joseph Disease / diagnosis,  genetics*
Magnetic Resonance Imaging
Middle Aged
Repetitive Sequences, Nucleic Acid

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