Parkinsonism in type 1 Gaucher's disease

摘要: Gaucher’s disease (GD) is the most common hereditary lysosomal storage disorder, with a prevalence of 1:57 000 in general population.1 The results from mutations glucocerebrosidase (GBA) gene, localised chromosome 1 (the frequent mutation N370S) and has an autosomal recessive pattern transmission. As result such mutations, there decreased activity enzyme subsequent glucocerebroside accumulation cells macrophage-monocyte system. This process may lead to hepatosplenomegaly, bone disease, pancytopenia. GD classically divided into three types, according presence neurological symptoms dynamics developing clinical picture.2 Type GD common, affects mainly Ashkenazi Jews, until recently was considered non-neuronopathic. It present at any age its course presentation are variable. Many type patients remain virtually asymptomatic, being diagnosed during evaluation for non-related disorder or familial screening symptomatic relative. In juvenile (type 3), movement disorders frequently found, but growing evidence that symptoms, particularly parkinsonism, also occur as late complication GD. The following case report illustrates situation. …