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Article

A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a Family With Early-Onset Alzheimer Disease

1 Aug 2003

Abstract excerpt

BACKGROUND: Autosomal dominant early-onset Alzheimer disease is a heterogeneous condition that has been associated with mutations in 3 different genes: the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes. Most cases are due to mutations in the PSEN1 gene, whereas mutations in the APP and PSEN2 genes are rare. OBJECTIVE: To describe a novel mutation in the PSEN2 gene...

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PMID: 12925374
DOI: 10.1001/archneur.60.8.1149

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