Ontology highlight
ABSTRACT:
SUBMITTER: Renton AE
PROVIDER: S-EPMC3200438 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Neuron 20110921 2
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype ...[more]