Source:http://linkedlifedata.com/resource/pubmed/id/15517591
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2005-1-24
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pubmed:abstractText |
Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (chi(2) = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.
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pubmed:grant | |
pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0885-3185
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pubmed:author |
pubmed-author:AfridiShehlaS,
pubmed-author:AndrewsHowardH,
pubmed-author:ClarkLorraine NLN,
pubmed-author:CoteLucien JLJ,
pubmed-author:FahnStanleyS,
pubmed-author:FordBlairB,
pubmed-author:FruchtStevenS,
pubmed-author:HarrisJulietteJ,
pubmed-author:LouisElan DED,
pubmed-author:MarderKK,
pubmed-author:MayeuxRichardR,
pubmed-author:Mejia-SantanaHelenH,
pubmed-author:NicolaiAngeliqueA,
pubmed-author:OttmanRuthR,
pubmed-author:StrugLisaL,
pubmed-author:WatersCherylC
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pubmed:copyrightInfo |
(c) 2004 Movement Disorder Society.
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pubmed:issnType |
Print
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
100-3
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:15517591-Aged,
pubmed-meshheading:15517591-Alleles,
pubmed-meshheading:15517591-Aspartic Acid,
pubmed-meshheading:15517591-DNA Mutational Analysis,
pubmed-meshheading:15517591-Female,
pubmed-meshheading:15517591-Gene Frequency,
pubmed-meshheading:15517591-Genotype,
pubmed-meshheading:15517591-Glucosylceramidase,
pubmed-meshheading:15517591-Humans,
pubmed-meshheading:15517591-Jews,
pubmed-meshheading:15517591-Linkage Disequilibrium,
pubmed-meshheading:15517591-Male,
pubmed-meshheading:15517591-Middle Aged,
pubmed-meshheading:15517591-Parkinson Disease,
pubmed-meshheading:15517591-Pilot Projects,
pubmed-meshheading:15517591-Point Mutation,
pubmed-meshheading:15517591-Serine
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pubmed:year |
2005
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pubmed:articleTitle |
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
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pubmed:affiliation |
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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