Journal article

Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy

A Filla, G De Michele, S Cocozza, A Patrignani, G Volpe, I Castaldo, G Ruggiero, V Bonavita, C Masters, G Casari, A Bruni

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2002

Abstract

OBJECTIVE: To perform a clinical and molecular study of a large autosomal dominant family with a complex neurologic syndrome that comprises early-onset dementia, extrapyramidal and cerebellar features, and epilepsy. BACKGROUND: Early-onset forms of dementia often are caused by genetic factors. Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with..

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