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August 28, 2012
Genetics of Sporadic Amyotrophic Lateral Sclerosis
Several genetic mutations can be associated with sporadic ALS and some of them are more common than previously thought. While superoxide dismutase 1 (SOD1) mutation was thought to be the most common genetic mutation known to be associated with sporadic ALS, recently the chromosome 9 open reading frame 72 (C9ORF72) mutations have been found to be more common. The frequency of SOD1 mutation is estimated to be approximately 2% in patients with sporadic ALS, while the mutation of C9ORF72 gene varies between 2.5%–21% of patients with sporadic ALS. Other genetic mutations associated with ALS include angiogenin loss of function, TAR DNA binding protein, fused in sarcoma, and optineurin, among others.
Submitted by Chafic Karam, MD
Disclosure: Dr. Karam serves on the editorial team for the Neurology Resident and Fellow Section.
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