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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Vydáno v:	Movement disorders Ročník 20; číslo 1; s. 100 - 103
Hlavní autoři:	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:	angličtina
Vydáno:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2005 Wiley
Témata:	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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