Article
A novel PSEN2 mutation associated with a peculiar phenotype.
Neurology - 22 Apr 2008
Piscopo P, Marcon G, Piras M R, Crestini A, Campeggi L Malvezzi, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A
Abstract excerpt
BACKGROUND: Mutations of presenilin 2 gene are a rare cause of familial Alzheimer disease (AD). We describe an Italian family with hereditary dementia associated with a novel mutation in the presenilin 2 gene. METHODS: Clinical investigations of the diseased subjects; interviews with relatives; studies of medical records; pedigree analysis; and neuroradiologic, neuropathologic, and molecular genetic studies were...
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