Document Detail


Brain choline acetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy.
MedLine Citation:
PMID:  3477997     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We measured the activity of choline acetyltransferase, the cholinergic marker enzyme, in the brains of 17 patients from five established pedigrees with dominantly inherited olivopontocerebellar atrophy (OPCA). OPCA is a group of cerebellar ataxia disorders in which serious intellectual impairment is not typically considered to be an accompanying feature. Patients from all five pedigrees demonstrated markedly reduced choline acetyltransferase activity in the cerebral cortex, with less severe changes in the hippocampus. Although the magnitude of the cortical choline acetyltransferase deficit is comparable to that seen in the brains of patients with Alzheimer's disease, none of our OPCA patients appeared, on last examination, to have severe global dementia of the Alzheimer type. Determination of the clinical significance of our biochemical data must await the results of studies in which the cognitive status of OPCA individuals has been accurately assessed.
Authors:
S J Kish; R D Currier; L Schut; T L Perry; C L Morito
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of neurology     Volume:  22     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1987 Aug 
Date Detail:
Created Date:  1987-11-10     Completed Date:  1987-11-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  272-5     Citation Subset:  IM    
Affiliation:
Human Brain Laboratory, Clarke Institute of Psychiatry, Toronto, Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Brain / enzymology*
Choline O-Acetyltransferase / metabolism*
Genes, Dominant*
Humans
Middle Aged
Olivopontocerebellar Atrophies / enzymology*,  genetics
Spinocerebellar Degenerations / enzymology*
Chemical
Reg. No./Substance:
EC 2.3.1.6/Choline O-Acetyltransferase

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


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