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Heterozygous mutations in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher disease (GD), an autosomal recessive lysosomal storage disease, are the most common risk factors for parkinsonism in several populations. A large meta-analysis, pooling genotyping data for the most common mutations from 16 different centers in the United States, Europe, Israel, and Asia, yielded a combined odds ratio (OR) for GBA mutations in subjects with Parkinson disease (PD) of >51 but did not include North Africans. Ashkenazi Jewish patients with PD had the highest mutation frequency (∼20%) (controls, 3%). The common LRRK2 G2019S mutation was also very frequent in Ashkenazi Jews (familial, 28%; isolated, 10%).2 This mutation, on the same haplotype,3 was also frequent in North African patients with PD (familial, 36%; isolated, 39%), who might, therefore, also have a high frequency of GBA mutations,2 although GBA mutations were not a risk factor for PD in Tunisian Berber Arabs.4
Methods.
We studied 194 unrelated patients with PD as reported previously5 and 177 ethnically matched control subjects, all of North African ancestry. Most patients were from Algeria (n = 147), Morocco (n = 23), Tunisia (n = 14), and Libya (n = 1), and 9 were of unknown origin. Mean ± SD age at onset was 50.9 ± 12.9 years (range 12–78 years), mean age at examination was 58.8 ± 13.3 years (range 14–83 years), mean disease duration was 7.5 ± 5.9 years (range 0–35 years), 52% …
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