Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers
نویسندگان
چکیده
منابع مشابه
A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
Type I Gaucher disease (GD), the most common lysosomal storage disorder, is caused by recessive glucocerebrosidase mutations. Both patients with Type I GD and heterozygous glucocerebrosidase mutation carriers have increased Parkinson’s disease (PD) risk. Non-motor symptoms (NMS) are more frequent in PD with heterozygous glucocerebrosidase mutations (PD-GBA). We used the non-motor symptoms scale...
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متن کاملParkinsonism Associated with Glucocerebrosidase Mutation
BACKGROUND Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations. CASE REPORT A 44-year-old woman suffering f...
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ژورنال
عنوان ژورنال: Neurobiology of Aging
سال: 2017
ISSN: 0197-4580
DOI: 10.1016/j.neurobiolaging.2017.06.010