Epidemiological Study Of Gerstmann-Straussler-Scheinker Disease With Codon 102 Mutation In Japan

Gerstmann-Sträussler-Scheinker disease (GSS) is a genetic prion disease harboring mutations in PRNP gene. GSS with codon 102 mutation (GSS102) is the most common type, and is more frequent in Japan than in Europe. It presents spinocerebellar degeneration-like feature (typical type), but there also exists a rapid progressive type. To evaluate the clinical and epidemiological feature of GSS102 in Japan, we collected information on clinical and epidemiological data of GSS102 analyzed by the CJD Surveillance Committee, Japan, from 1999 to 2016. A total of 117 GSS102 patients were collected. Among them, 90 (76.9%) reside or born in Kyushu island which locates in south-west part of Japan. Within Kyushu Island, there were two large clustering of patients. Family history was observed in 88.8%. Periodic synchronous wave complexes (PSWC) in EEG were observed only in 12.3%, hyperintense cortices in diffusion-weighted MRI (DWI-MRI), 37.6%. The duration until the development of akinetic mutism was significantly shorter in patients with hyperintense lesions in DWI-MRI (p < .0001). Hyperintensity in DWI-MRI could be a predictor of rapid progression in GSS102.