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Gaucher disease type I complicated with Parkinson's syndrome
Judit Várkonyi1, Zsuzsa Simon, Krisztina Soós
1Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary. quitvar@axelero.hu
Abstract:
Gaucher disease type I is the so-called non-neuronal adult form of the autosomally inherited lysosomal storage disease. The simultaneous occurrence of Gaucher disease with Parkinson's syndrome has been reported to aggravate both disorders, leading to an unusually early onset and therapy resistance. Neurological alterations in Gaucher disease type I are mostly related to CNS bleeding and skeletal complications. The patient presented here was sensitive to combination therapy for 5 years.