Article
Lewy body and Alzheimer pathology in a family with the amyloid-beta precursor protein APP717 gene mutation.
Acta neuropathologica - 1 Aug 2000
Rosenberg C K, Pericak-Vance M A, Saunders A M, Gilbert J R, Gaskell P C, Hulette C M
Abstract excerpt
Mutations in the amyloid precursor protein (APP) gene cause one form of early onset familial Alzheimer's disease (AD). One such family has been studied genetically and neuropathologically and represents the basis of the present report. Four siblings with the APP717 Val to Ile mutation, aged 59, 65, 61 and 64 years, apolipoprotein E (APOE) genotyped 2,4 (first three) and 2,3 respectively, had severe AD, Braak...
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