Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

Mutations in the β‐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 evalua...

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Vydané v:	Movement disorders Ročník 20; číslo 1; s. 100 - 103
Hlavní autori:	Clark, Lorraine N., Nicolai, Angelique, Afridi, Shehla, Harris, Juliette, Mejia-Santana, Helen, Strug, Lisa, Cote, Lucien J., Louis, Elan D., Andrews, Howard, Waters, Cheryl, Ford, Blair, Frucht, Steven, Fahn, Stanley, Mayeux, Richard, Ottman, Ruth, Marder, K.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2005 Wiley
Predmet:	Aged Alleles Aspartic Acid - genetics beta-glucocerebrosidase Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Female Gene Frequency genetic risk factor Genotype Glucosylceramidase - genetics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy heterozygote homozygote Humans Jewish ethnicity Jews Linkage Disequilibrium Male Medical sciences Middle Aged N370S Nervous system (semeiology, syndromes) Neurology Parkinson Disease - genetics Pilot Projects Point Mutation Serine - genetics Human beta-glucocerebrosidase Nervous system diseases Parkinson disease heterozygote genetic risk factor Cerebral disorder Jewish ethnicity N370S Central nervous system disease Risk factor Degenerative disease Extrapyramidal syndrome homozygote
ISSN:	0885-3185, 1531-8257
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Shrnutí:	Mutations in the β‐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 β‐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 (χ2 = 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. © 2004 Movement Disorder Society
Bibliografia:	Parkinson's Disease Foundation National Institutes of Health - No. NS36630; No. RR00645; No. P01AG07232 istex:587E5C261633AB239C332AB59820F787CA56C192 ark:/67375/WNG-NVPTXQMK-V ArticleID:MDS20320 Parkinson's and Movement Disorder Foundation ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.20320