Penetrance of PD in Glucocerebrosidase Gene 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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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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متن کاملMolecular Cloning and Mutagenesis of Rat Glucocerebrosidase Gene
Purpose: The aim of this study was cloning the Gba enzyme in pUCBM21 plasmid, and making frame mutation on it and sequencing it. Materials and methods: mRNA was extracted from mouse spleen and glucocerebrosidase cDNA was synthesized and amplified by PCR with specific primers. cDNA was cloned in pUCBM21 and analyzed by restriction enzymes. A fragment of its sequence was deleted using MscI restr...
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ژورنال
عنوان ژورنال: Neurology
سال: 2012
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000416261.29035.4c