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Article

Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Journal of inherited metabolic disease - 1 May 2013

Barrett M J, Giraldo P, Capablo J L, Alfonso P, Irun P, Garcia-Rodriguez B, Pocovi M, Pastores G M

Abstract excerpt

Mutations in β-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes. This study aimed to determine the comparative risk of parkinsonism in individuals who are affected or...

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Identifiers

PMID: 22968580
DOI: 10.1007/s10545-012-9527-5
PMCID: PMC4102607

Genes

GBA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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