Document Detail

Parkin polymorphisms in progressive supranuclear palsy.
MedLine Citation:
PMID:  18022644     Owner:  NLM     Status:  MEDLINE    
Progressive supranuclear palsy (PSP) is a mostly sporadic disorder of unknown pathogenesis. Familial PSP have been reported related to mutations of microtubule-associated protein tau (MAPT). Mutations of the Park2 gene cause autosomal recessive parkinsonism with neuropathological findings consistent with neurofibrillary tangles and tau immunoreactive lesions. We analysed the presence of MAPT and Park2 mutations and polymorphisms in sporadic and familial PSP. No patients had mutations of Park2 or MAPT but there was genetic association for the polymorphism Val380Leu in sporadic and familial PSP. Leu380 is associated with less risk of familial or sporadic PSP.
Raquel Ros; Israel Ampuero; Justo García de Yébenes
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-11-26
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  268     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-03-24     Completed Date:  2008-07-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  176-8     Citation Subset:  IM    
Banco De Tejidos Para Investigaciones Neurológicas, Madrid, Spain.
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MeSH Terms
DNA Mutational Analysis
Gene Frequency
Genetic Predisposition to Disease*
Leucine / genetics
Polymorphism, Genetic*
Supranuclear Palsy, Progressive / genetics*
Ubiquitin-Protein Ligases / genetics*
Valine / genetics
tau Proteins / genetics
Reg. No./Substance:
0/MAPT protein, human; 0/tau Proteins; 61-90-5/Leucine; 7004-03-7/Valine; EC Ligases; EC protein

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

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