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1. A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family.

Author

Mengel D, Liu L, Yamamoto R, Zülow S, Deuschl C, Hermann DM, Zerr I, Selkoe DJ, and Dodel R

Subjects
Alzheimer Disease diagnostic imaging, Amyloid beta-Peptides metabolism, Brain diagnostic imaging, Brain metabolism, Brain pathology, Cell Line, Genes, Dominant, Humans, Iraq, Magnetic Resonance Angiography, Middle Aged, Peptide Fragments metabolism, Alzheimer Disease genetics, Apraxias genetics, Confusion genetics, Mutation, Missense, Presenilin-1 genetics
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., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Published
2020
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