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In the present study, we reported a large series ofTunisian patientsin which thehigh frequencyof the G2019S mutation seemed to be the cause of autosomal dominant PD. Themutation frequencyamong patients (33.6% of total, 37.5% of familial cases and 31% for sporadic cases) was in agreement with previously reported series of PD patients fromTunisiaandNorth Africa.

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Findings.Gaucher disease(GD) is the most frequent lysosomal storage disorder [].It is an autosomal recessive inborn defect in the glucocerebrosidase gene (GBA) on1q21 leading to enzymatic deficiency of the β-glucocerebrosidase and the accumulation of glycosylceramide substrate in the macrophage's lysosomes.GD is characterized by a considerable phenotypic and genotypic heterogeneity [].

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The mutationfrequencyamong patients (33.6% of total, 37.5% of familial cases and 31% for sporadic cases) was in agreement with previously reported series of PD patients fromTunisiaand NorthAfrica.Frequencystudies revealed a strikinglyhighvalue in NorthAfrica(40.3% of familial and 33% of sporadic cases) . Therefore, the G2019S ...

Findings.Gaucher disease(GD) is the most frequent lysosomal storage disorder [].It is an autosomal recessive inborn defect in the glucocerebrosidase gene (GBA) on1q21 leading to enzymatic deficiency of the β-glucocerebrosidase and the accumulation of glycosylceramide substrate in the macrophage's lysosomes.GD is characterized by a considerable phenotypic and genotypic heterogeneity [].

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