title: [Gerstmann-Sträussler-Scheinker disease. Pathologal and genetic study].
abstract: Gerstmann-Sträussler-Scheinker's disease is a familial spongiform encephalopathy whose pathological hallmark is the existence--especially in the cerebellum--of numerous amyloid plaques. We report here the third clinicopathological case in a French family. Brain tissue from one of its members--initially described as familial Creutzfeldt-Jakob's disease--has been reported as successfully inoculated to monkeys. We present the currently accumulating data favouring the hypothesis of a common etiology for familial Creutzfeldt-Jakob's disease and Gerstmann-Sträussler-Scheinker's disease. The familial characteristics, resulting in different durations of incubation and evolution, could lead to different clinical and histological expressions.
authors.affiliation: Service de Neurologie, Hôpital Avicenne, Bobigny.
authors.forename: R
authors.initials: R
authors.lastname: Genthon
authors.forename: F
authors.initials: F
authors.lastname: Gray
authors.forename: J
authors.initials: J
authors.lastname: Salama
authors.forename: C
authors.initials: C
authors.lastname: Duyckaerts
authors.forename: C
authors.initials: C
authors.lastname: Belin
authors.forename: J M
authors.initials: JM
authors.lastname: Brucher
authors.forename: H
authors.initials: H
authors.lastname: Baron
authors.forename: P
authors.initials: P
authors.lastname: Delaporte
mesh_terms: D000686:Amyloidosis / Q000473:pathology; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007729:Kuru / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D010375:Pedigree
vernacular_title: Maladie de Gerstmann-Sträussler-Scheinker. Etude pathologique et généalogique.