Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family
Heldt, N.; Boellaard, J.W.; Brown, P.; Cervenákova, L.; Doerr-Schott, J.; Thomas, C.; Scherer, C.; Rohmer, F.
Clinical Neuropathology 17(4): 229-234
1998
ISSN/ISBN: 0722-5091 PMID: 9707339 Document Number: 494132
We report a kindred of French/Alsatian origin with symptoms of Gerstmann-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 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.