RESUMEN
PURPOSE: We performed the study to determine the clinical characteristics and natural history of Gaucher disease with CNS involvement in Korea as well as to determine whether gene analysis would be helpful in the identification of neuronopathic Gaucher disease. METHODS: We described the initial symptom, clinical manifestations, age of onset, clinical neurophysiologic findings and brain MRI findings from the medical records of 13 patients with neuronopathic Gaucher disease identifed from the Korean Gaucher Disease Patient Registry. Mutation analysis was performed in 7 cases of neurono pathic Gaucher disease patients by PCR or PCR-single strand conformation polymorphism (SSCP). RESULTS: Among 46 cases of Korean Gaucher disease, type ll was found in 6 cases (13%) and type lll was found in 7 cases (15%). Type II Gaucher disease showed typical clinical features, and those patients expired in less than 2 years of age. All the type IIIa patients presented epileptic seizure as an initial symptom and most of the patients survived. All the type IIIa patients revealed epileptiform activity and photoparoxysmal response. Mutation analysis in neuronopathic Gaucher disease patients revealed L444P/L444P (2 cases), F213I/F213I (1 case), F213I/? (1 case) and N188S/? (1 case). However, mutation analysis in type I Gaucher disease revealed L444P/? (4 cases), F213I/? (2 cases) and L444P/F213I (1 case). CONCLUSION: The clinical characteristics and natural history of Korean Gaucher disease is similar to those of Jewish Gaucher disease. Brain MRI, clinical neurophysiologic study and gene analysis are not helpful in the identification of neuronopathic Gaucher disease. Regular neurologic examinations are the only method to determine CNS involvement in Gaucher disease.