A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family.
A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family.
Neurobiol Aging. 2019 Aug 07;:
Authors: Mengel D, Liu L, Yamamoto R, Zülow S, Deuschl C, Hermann DM, Zerr I, Selkoe DJ, Dodel R
Abstract
In the present study, a novel mutation in the presenilin 1 gene was discovered in an Iraq-native patient with early-onset Alzheimer's disease, who presented with speech impairment and memory decline at age 46 years. Magnetic resonance imaging showed a frontotemporal atrophy. Sanger sequencing identified a heterozygous T to A transversion at position 815 (c.815T>A) in the presenilin 1 gene (PSEN1), resulting in a novel missense mutation at codon 272 from valine to aspartate (V272D). We tested this PSEN1 mutation in vitro and found V272D resulted in an altered Aβ42/40 ratio.
PMID: 31500908 [PubMed - as supplied by publisher]
Source: Neurobiology of Aging - Category: Geriatrics Authors: Mengel D, Liu L, Yamamoto R, Zülow S, Deuschl C, Hermann DM, Zerr I, Selkoe DJ, Dodel R Tags: Neurobiol Aging Source Type: research
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