Faculty Opinions recommendation of Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Year: 2012
Type: peer-review
Abstract: 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 non-coding 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 phenotype and TDP-43 based pathology.Analysis of extended clinical
Author: Sean Ryder
Institution: University of Massachusetts Chan Medical School
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: Mayo Clinic, ALS Association, Larry L. Hillblom Foundation, Mayo Foundation for Medical Education and Research, Hellman Family Foundation, National Institutes of Health, Canadian Institutes of Health Research, National Institute on Aging, National Institute of Neurological Disorders and Stroke
Awards: G1842180014, G1888650583, G2212362641, G2354759373, G2623777770, G2973711782, G3023763630, G3036763132, G3244572043, G413369726, G4298864339, G4741916379, MAYO ALZHEIMERS DISEASE RESEARCH CENTER, Biomarkers for Preclinical Parkinson's disease, G5484535055, G5488945457, G603598372, G6256152478, G637093627, G682375611, G6875889451, Progranulin, TDP-43 and Cell Death, G8371711202, The Four Repeat Tauopathy Neuroimaging Initiative, G9000005508, G9000014109, G9000018678, G9000020322, G9000029343, G9000039494, G9000054089, G9000074332, G9000216843, G9000259012, G9000260668, G9000328579
OpenAlex ID: W4214564601