GERSTMANN-STRAUSSLER-SCHEINKER-DISEASE WITH A117V MUTATION IN A 2ND FRENCH-ALSATIAN FAMILY

We report a kindred of French/Alsatian origin with symptoms of Gerstma nn-Straussler-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 immune-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 p athology and spread of this mutation are discussed.