Document Detail


Brainstem in Machado-Joseph disease: atrophy or small size?
MedLine Citation:
PMID:  18042234     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Machado-Joseph disease (MJD), one of the most common types of hereditary spinocerebellar degeneration caused by abnormal expansion of the CAG repeat in the MJD1 gene, presents atrophy of the infratentorial structures neuropathologically and neuroradiologically. Although a significant positive correlation has been reported between infratentorial atrophy and the number of expanded CAG repeat units, the exact changing course of brainstem size in the individual case remains to be resolved. We investigated seven cases of genetically confirmed MJD longitudinally by magnetic resonance imaging with observation periods of 4.5-10.6 years. Measurement of the midsagittal areas of infratentorial structures disclosed progressive atrophy of the pontine base and cerebellum, which correlated significantly with age, whilst midbrain and pontine tegmentum showed atrophy with no significant progression, suggesting it was better identified as 'small size' and might have mostly been completed before the initial symptoms. Such differences between regions in atrophy progression must be caused by a difference in the neuropathological course.
Authors:
Y Horimoto; M Matsumoto; H Yuasa; A Kojima; K Nokura; E Katada; T Yamamoto; H Yamamoto; S Mitake
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Publication Detail:
Type:  Journal Article     Date:  2007-11-27
Journal Detail:
Title:  European journal of neurology : the official journal of the European Federation of Neurological Societies     Volume:  15     ISSN:  1468-1331     ISO Abbreviation:  Eur. J. Neurol.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2008-01-03     Completed Date:  2008-01-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9506311     Medline TA:  Eur J Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  102-5     Citation Subset:  IM    
Affiliation:
Choju Medical Institute, Fukushimura Hospital, Yamanaka, Noyori, Toyohashi, Japan. holly@nagoya-rehab.or.jp
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Atrophy / genetics,  pathology*
Brain Stem / pathology*,  physiopathology
Cerebellum / pathology*,  physiopathology
Disease Progression
Female
Humans
Machado-Joseph Disease / genetics,  pathology*,  physiopathology
Magnetic Resonance Imaging
Male
Mesencephalon / pathology,  physiopathology
Middle Aged
Nerve Tissue Proteins / genetics
Nuclear Proteins / genetics
Pons / pathology,  physiopathology
Repressor Proteins / genetics
Trinucleotide Repeat Expansion / genetics
Chemical
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Repressor Proteins; EC 3.4.22.-/ATXN3 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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