Gaucher-Associated Parkinsonism

Parkinsonism among Gaucher disease carriers.

An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed c...

Parkinsonism associated with laryngeal spasm.

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...

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...

Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism