Parkinsonism Associated with Glucocerebrosidase Mutation

Parkinsonism 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...

Glucocerebrosidase 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...

Mitochondrial dysfunction associated with glucocerebrosidase deficiency

The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder. Furthermore, homozygous and heterozygous GBA mutations are numerically the greatest genetic risk factor for developing Parkinson's disease (PD), the second most common neurodegenerative disorder. The loss of GCase activity results ...

Parkinsonism associated with laryngeal spasm.

Reversible parkinsonism associated with neurocysticercosis.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba PR, Brazil. Correspondence: Hélio A. G. Teive; Rua General Carneiro 1.103 / 102; 80060-150 Curitiba PR Brasil; E-mail: [email protected] Conflict of interest: There is no conflict of interest to declare. Received 23 May 2012; Received in final form 04 June 201...