Document Detail

Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.
MedLine Citation:
PMID:  735927     Owner:  NLM     Status:  MEDLINE    
A relationship between disordered metabolism of purines and the central nervous system has been established by the Lesch-Nyhan syndrome. In this disorder a virtually complete defect in the activity of HGPRT is associated with a syndrome of severe mental retardation, choreoathetoid cerebral palsy, and bizarre, self-mutilative behavior. In patients with partial defects in HGPRT, two have had symptoms that have been labeled spinocerebellar. Neither were appreciably ataxic, and the relationship between the symptoms and the enzyme defect remains to be established. Analysis of HGPRT in members of a large kindred with spinocerebellar degeneration revealed normal levels of the enzyme. These observations suggest that a relationship between the activity of HGPRT and clinical ataxia is remote.
W L Nyhan
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Advances in neurology     Volume:  21     ISSN:  0091-3952     ISO Abbreviation:  Adv Neurol     Publication Date:  1978  
Date Detail:
Created Date:  1979-03-24     Completed Date:  1979-03-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0367524     Medline TA:  Adv Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  279-87     Citation Subset:  IM    
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MeSH Terms
Ataxia / enzymology*
Cerebellar Diseases / enzymology
Hypoxanthine Phosphoribosyltransferase / metabolism*
Lesch-Nyhan Syndrome / diagnosis,  enzymology
Spinal Cord Diseases / enzymology
Reg. No./Substance:
EC Phosphoribosyltransferase

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