𝔖 Bobbio Scriptorium
✦   LIBER   ✦

TDP-43 A315T mutation in familial motor neuron disease

✍ Scribed by Michael A. Gitcho; Robert H. Baloh; Sumi Chakraverty; Kevin Mayo; Joanne B. Norton; Denise Levitch; Kimmo J. Hatanpaa; Charles L. White III; Eileen H. Bigio; Richard Caselli; Matt Baker; Muhammad T. Al-Lozi; John C. Morris; Alan Pestronk; Rosa Rademakers; Alison M. Goate; Nigel J. Cairns

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
239 KB
Volume
63
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA‐binding protein 43 (TDP‐43) proteinopathies to investigate TDP‐43 as a candidate gene in familial cases of motor neuron disease. Sequencing of the TDP‐43 gene led to the identification of a novel missense mutation, Ala‐315‐Thr, which segregates with all affected members of an autosomal dominant motor neuron disease family. The mutation was not found in 1,505 healthy control subjects. The discovery of a missense mutation in TDP‐43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP‐43 function and neurodegeneration. Ann Neurol 2008

πŸ“œ SIMILAR VOLUMES

TDP-43 mutation in familial amyotrophic
TDP-43 mutation in familial amyotrophic lateral sclerosis
✍ Akio Yokoseki; Atsushi Shiga; Chun-Feng Tan; Asako Tagawa; Hiroyuki Kaneko; Akih πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 388 KB πŸ‘ 2 views
Potential implications of a ciliary neur
Potential implications of a ciliary neurotrophic factor gene mutation in a german population of patients with motor neuron disease
✍ Ralf Giess; Rudolf Goetz; Bertold Schrank; Guenter Ochs; Michael Sendtner; Klaus πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 27 KB πŸ‘ 2 views

The frequency of a recently described point mutation of the ciliary neurotrophic factor (CNTF) gene was investigated in a population of 154 German patients with motor neuron disease (MND). Twenty-two percent of the patients were heterozygous, 2% homozygous for the CNTF mutation. Since the gene defec

A novel missense point mutation (S134N)
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease
✍ M Watanabe; M Aoki; K Abe; M Shoji; T Iizuka; Y Ikeda; S Hirai; K Kurokawa; T Ka πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 120 KB πŸ‘ 2 views

## Communicated by Francesco Giannelli (NCV) were in the normal range, and there was no finding of nerve conduction block. His younger brother had also been affected by MND. He had developed muscle weakness of the right upper limb at age 52, followed by muscle weakness and atrophy of all limbs, an