Parkinsonism among Gaucher disease carriers

作者：Özlem Göker-Alpan, R Schiffmann, M E LaMarca, R L Nussbaum, A McInerney-Leo, E Sidransky · 发表于：Journal of Medical Genetics · 年份：2004 · DOI：10.1136/jmg.2004.024455 · 被引用次数：369 · 研究领域：Lysosomal Storage Disorders Research、Cellular transport and secretion、Carbohydrate Chemistry and Synthesis

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 carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.