Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

BACKGROUND: Mutations in the gene encoding TDP-43 have been identified in both familial and sporadic amyotrophic lateral sclerosis (ALS). METHODS: A mutation screen and copy number analysis in a motor neuron disease clinic cohort was conducted to characterise the genetic contribution of TARDBP. RESULTS: A novel missense mutation in a highly conserved region of TDP-43 was identified in a patient with sporadic ALS. The mutation is in close vicinity to previously identified changes. Copy number variation abnormalities were not detected. CONCLUSIONS: The findings stress the importance of TDP-43 in the pathogenesis of sporadic ALS.

Original publication

DOI

10.1136/jnnp.2008.166512

Type

Journal article

Journal

J Neurol Neurosurg Psychiatry

Publication Date

11/2009

Volume

80

Pages

1283 - 1285

Keywords

Aged, Amyotrophic Lateral Sclerosis, Base Sequence, DNA Copy Number Variations, DNA-Binding Proteins, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree