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A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.
J Alzheimers Dis
January 2015
Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA Easton Center for Alzheimer's Disease Research at UCLA, Los Angeles, CA, USA.
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.
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