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Article

A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Journal of Alzheimer's disease : JAD - 1 Jan 2014

Ting Simon Kang Seng, Benzinger Tammie, Kepe Vladimir, Fagan Anne, Coppola Giovanni, Porter Verna, Hecimovic Silva, Chakraverty Suma, Alvarez-Retuerto Ana Isabel, Goate Alison, Ringman John M

Abstract excerpt

Mutations in PSEN1 are the most common cause of autosomal dominant familial Alzheimer's disease (FAD). We describe an African-American woman with a family history consistent with FAD who began to experience cognitive decline at age 50. Her clinical presentation, MRI, FDG-PET, and PIB-PET scan findings were consistent with AD and she was found to have a novel I238M substitution in PSEN1. As this mutation caused...

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Identifiers

PMID: 24413619
DOI: 10.3233/JAD-131844
PMCID: PMC3972314

Genes

PSEN1

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