A JAPANESE FAMILY WITH A VARIANT OF GERSTMANN-STRAUSSLER-SCHEINKER-DISEASE

Objective-A new variant of Gerstmann-Straussler-Scheinker disease (GSS ) was reported, which had a substitution of glutamate to lysine at cod on 219 (E219K) in addition to a P102L mutation on the same allele of t he PrP gene. However, clinical features were not detailed and patholog ical studies were nor done. Unusual clinical, neuroradiological, and p athological findings are reported for these patients. Methods and resu lts-Clinical presentations of the patients in the same family were var iable; progressive dementia with minimal ataxia in some patients but a taxia without dementia in others, PET studies with F-18-2-fluoro-2-deo xyglucose (FDG) disclosed a relative decrease of FDG uptake in bilater al temporoparietal cortices of a patient with dementia, but in the cer ebellar cortices in a patient with ataxia, At necropsy, a patient with dementia had multicentric and diffuse plaques stained with PrP antise rum, but not with haematoxylin and eosin or Congo red, in the cerebral and cerebellar cortices. Conclusion-Neurological and neuropathologica l features in the patients were atypical of the classic form of GSS wi th P102L mutation. The absence of Congo red staining prion protein pla ques is probably attributable to E219K polymorphism on the same allele of the PrP gene.