Document Detail

Homozygotes and heterozygotes for ciliary neurotrophic factor null alleles do not show earlier onset of Huntington's disease.
MedLine Citation:
PMID:  9305364     Owner:  NLM     Status:  MEDLINE    
The CAG repeat number on Huntington's disease (HD) chromosomes accounts for about 60% of the variance in the age at onset of HD. However, distinct familial factors may also influence the age at onset. HD is associated with loss of medium-sized GABA-ergic striatal output neurons. Intracerebral administration of human ciliary neurotrophic factor (CNTF) protects striatal output neurons in excitotoxic rodent and primate models of HD induced by intrastriatal quinolinic acid injection. We have examined the effect of a common null mutation in the human CNTF gene on the age of onset of HD using a multiple regression approach that takes into account the CAG repeat number on HD chromosomes. We failed to detect an earlier onset of HD in nine homozygotes and 71 heterozygotes with this CNTF mutation compared with 203 homozygotes with wild-type alleles.
D C Rubinsztein; J Leggo; M Chiano; S Korn; A Dodge; G Norbury; E Rosser; D Craufurd
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  49     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1997 Sep 
Date Detail:
Created Date:  1997-10-10     Completed Date:  1997-10-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  890-2     Citation Subset:  AIM; IM    
Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
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MeSH Terms
Age of Onset
Ciliary Neurotrophic Factor
Disease Models, Animal
Huntington Disease / diagnosis,  genetics*
Mice, Knockout
Nerve Growth Factors / genetics*
Nerve Tissue Proteins / genetics*
Trinucleotide Repeats / genetics
Reg. No./Substance:
0/Ciliary Neurotrophic Factor; 0/Nerve Growth Factors; 0/Nerve Tissue Proteins

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

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