C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Neurology (Impact Factor: 8.3). 07/2012; 79(5):482-3. DOI: 10.1212/WNL.0b013e31826170f1
Source: PubMed

ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neurologic disorder, characterized by progressive degeneration of both upper and lower motor neurons in the brain and spinal cord. Previous genetic studies have identified mutations in Cu/Zn superoxide dismutase (SOD1), transactive response binding protein 43 (TARDBP), fused in sarcoma (FUS), and valosin containing protein (VCP) genes as being causative of disease.(1) Recently, an expansion of the noncoding GGGGCC hexanucleotide repeat in chromosome 9 open reading frame 72 (C9ORF72) was identified as an important novel genetic defect in patients with ALS without or with frontotemporal dementia (FTD-ALS).(2,3) Here we report the frequency of this new mutation and its associated clinical features in a cohort of patients obtained from the Coriell Cell Repository.

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Available from: Nicola Jayne Rutherford, Mar 27, 2014