Article
Presenilin 1 Gene Mutation (M139V) in a German Family with Early-Onset Alzheimer's Disease: A Case Report.
Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists - 23 Feb 2022
Fuentes Manuel, Schipke Carola G, Freiesleben Silka Dawn, Klostermann Arne, Peters Oliver
Abstract excerpt
OBJECTIVE: This study describes a 44-year-old German male with early-onset Alzheimer's disease as a result of a M139V presenilin 1 mutation. The patient has at least seven affected family members, spanning at least four generations. METHOD: We performed a complete demographic, genetic, neuropsychological, neuropsychiatric, neuroradiological, and neuropathological characterizations of this patient. The findings...
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