The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations
نویسندگان
چکیده
منابع مشابه
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
BACKGROUND Mutations in the glucocerebrosidase gene (GBA) result in Gaucher disease and can be associated with a phenotype characterized by adult-onset progressive neurologic deterioration and parkinsonism. OBJECTIVE To define the clinical and neurologic spectrum of parkinsonian manifestations associated with GBA mutations. Design, Setting, and Patients A prospective case series of 10 patient...
متن کاملThe Spectrum of Neurological Manifestations Associated with Gaucher Disease
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological invol...
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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15 صفحه اولGlucocerebrosidase mutations in primary parkinsonism
INTRODUCTION Mutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism. METHODS We studied 2766 unrelated consecutive patients with clinical diagnosis of primary degenerative parkinsonism (including 2350 PD), and 111...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2008
ISSN: 0003-9942
DOI: 10.1001/archneur.65.10.1353