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Article

Familial Dementia With Frontotemporal Features Associated With M146V Presenilin‐1 Mutation

14 Mar 2013

Abstract excerpt

Most of the mutations in the presenilin-1 gene (PS-1) are associated with familial Alzheimer's disease (AD). However, certain examples can be associated with frontotemporal dementia (FTD). We performed a clinical evaluation of individuals belonging to a family with the FTD phenotype, and additional molecular studies and neuropathological assessment of the proband. The PS-1 M146V mutation was found in the...

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PMID: 23489366
DOI: 10.1111/bpa.12051

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