Document Detail


Machado-Joseph disease in three Scandinavian families.
MedLine Citation:
PMID:  9588850     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Machado-Joseph disease (MJD) is an autosomal dominantly inherited neurodegenerative disorder characterized by varying age of onset and pronounced phenotypic heterogeneity. The clinical core features include gait ataxia, external ophthalmoplegia, nystagmus, and bulging eyes. Recently, Kawagushi et al. (1994) cloned the MJD1 gene on chromosome 14 and MJD turned out to be the fifth neurodegenerative disease caused by an unstable CAG repeat expansion. We have studied two large Danish families and one Norwegian family with MJD. Three features not previously associated with MJD are reported: dementia, generalized muscle and joint pain, and in one case neuropathological examination revealed atrophy of the inferior olives. We found a significant inverse correlation between age of onset and the length of the CAG repeat expansion, and anticipation is described through four succeeding generations. Instability of the CAG repeat expansion was most pronounced at paternal transmission.
Authors:
T Løkkegaard; J E Nielsen; L Hasholt; K Fenger; L Werdelin; L Tranebjaerg; M Lauritzen; E Colding-Jørgensen; M Grønbech-Jensen; O A Henriksen; S A Sørensen
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  156     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-08-27     Completed Date:  1998-08-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  152-7     Citation Subset:  IM    
Affiliation:
Institute of Medical Biochemistry and Genetics, The Panum Institute, University of Copenhagen, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Dementia / genetics
Female
Humans
Machado-Joseph Disease / diagnosis*,  genetics
Male
Middle Aged
Nerve Tissue Proteins / genetics
Nuclear Proteins
Pedigree
Phenotype
Repressor Proteins
Scandinavia
Trinucleotide Repeats
Chemical
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Repressor Proteins; EC 3.4.22.-/ATXN3 protein, human

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