Ontology highlight
ABSTRACT:
SUBMITTER: DeJesus-Hernandez M
PROVIDER: S-EPMC3202986 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Neuron 20110921 2
Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenot ...[more]