NR AFHJ
AU Heldt,N.; Boellaard,J.W.; Brown,P.; Cervenakova,L.; Doerr-Schott,J.; Thomas,C.; Scherer,C.; Rohmer,F.
TI Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family
QU Clinical Neuropathology 1998 Jul-Aug; 17(4): 229-34
PT journal article
AB We report a kindred of French/Alsatian origin with symptoms of Gerstmann-Sträussler-Scheinker disease over 3 generations. In the propositus, cerebellar signs and memory disturbance were the presenting features, followed by other neurological manifestations. Biopsy of the cerebral cortex showed numerous multicentric and "kuru"-type amyloid plaques that on immuno-light and electron microscopy stained with antibody to prion protein. Molecular genetic analysis revealed an A117V mutation in the open reading frame of the prion protein gene. Questions as to pathology and spread of this mutation are discussed.
MH Adult; Biopsy; Brain/pathology; Case Report; *DNA Mutational Analysis; Dementia/diagnosis/genetics/pathology; Diagnosis, Differential; France; Genotype; Gerstmann-Sträussler-Scheinker Disease/diagnosis/*genetics/pathology; Human; Kuru/diagnosis/*genetics/pathology; Male; Neurologic Examination; Neuropsychological Tests; Pedigree; Phenotype; Prions/*genetics; Senile Plaques/pathology
AD Service d'Anatomie Pathologique Generale, Hopital de Hautepierre, Strasbourg, France.
SP englisch
PO Deutschland