[Gerstmann-Sträussler-Scheinker disease. Pathologal and genetic study].
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.
Genthon
R
R
Service de Neurologie, Hôpital Avicenne, Bobigny.
Gray
F
F
Salama
J
J
Duyckaerts
C
C
Belin
C
C
Brucher
J M
JM
Baron
H
H
Delaporte
P
P
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
Maladie de Gerstmann-Sträussler-Scheinker. Etude pathologique et généalogique.