Article
A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings.
Neuroscience letters - 21 Nov 2012
Kim Jungeun, Bagyinszky Eva, Chang Young Hee, Choe Gheeyoung, Choi Byung-Ok, An Seong Soo A, Kim Sangyun
Abstract excerpt
We report a novel presenilin 1 gene (PSEN1) mutation (H163P) in a patient with sporadic early-onset Alzheimer's disease. Clinical, molecular, and neuropathological examinations were performed on an index patient, who presented at the age of 34 years with depression and memory disturbances. At the age of 36 years, she exhibited seizures and myoclonus, cerebellar ataxia, and Parkinsonism. A novel mutation at codon...
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