In:
Movement Disorders, Wiley, Vol. 20, No. 1 ( 2005-01), p. 100-103
Abstract:
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 (χ 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. © 2004 Movement Disorder Society
Type of Medium:
Online Resource
ISSN:
0885-3185
,
1531-8257
Language:
English
Publisher:
Wiley
Publication Date:
2005
detail.hit.zdb_id:
2041249-6
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