amyloid-beta-peptides and Apraxias

amyloid-beta-peptides has been researched along with Apraxias* in 1 studies

Other Studies

1 other study(ies) available for amyloid-beta-peptides and Apraxias

Article	Year
A novel V272D presenilin mutation associated with logopenia, disorientation, and apraxia in an autosomal-dominant Alzheimer's disease family. Neurobiology of aging, 2020, Volume: 85 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. Topics: Alzheimer Disease; Amyloid beta-Peptides; Apraxias; Brain; Cell Line; Confusion; Genes, Dominant; Humans; Iraq; Magnetic Resonance Angiography; Middle Aged; Mutation, Missense; Peptide Fragments; Presenilin-1	2020

Article

Year

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

Neurobiology of aging, 2020, Volume: 85

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.

Topics: Alzheimer Disease; Amyloid beta-Peptides; Apraxias; Brain; Cell Line; Confusion; Genes, Dominant; Humans; Iraq; Magnetic Resonance Angiography; Middle Aged; Mutation, Missense; Peptide Fragments; Presenilin-1

2020