Ontology highlight
ABSTRACT:
SUBMITTER: Fratta P
PROVIDER: S-EPMC4270445 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Fratta Pietro P Fratta Pietro P Polke James M JM Newcombe Jia J Mizielinska Sarah S Lashley Tammaryn T Poulter Mark M Beck Jon J Preza Elisavet E Devoy Anny A Sidle Katie K Howard Robin R Malaspina Andrea A Orrell Richard W RW Clarke Jan J Lu Ching-Hua CH Mok Kin K Collins Toby T Shoaii Maryam M Nanji Tina T Wray Selina S Adamson Gary G Pittman Alan A Renton Alan E AE Traynor Bryan J BJ Sweeney Mary G MG Revesz Tamas T Houlden Henry H Mead Simon S Isaacs Adrian M AM Fisher Elizabeth M C EM
Neurobiology of aging 20140801 1
An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Although 0-30 hexanucleotide repeats are present in the general population, expansions >500 repeats are associated with C9ALS/FTD. Large C9ALS/FTD expansions share a common haplotype and whether these expansions derive from a single founder or occur more frequently on a predisposing haplotype is yet to be determined and is relevant to di ...[more]