A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

• Published in: Neurobiology of aging Vol. 33; no. 1; pp. 208.e1 - 208.e5
• Main Authors: Tümer, Zeynep, Bertelsen, Birgitte, Gredal, Ole, Magyari, Melinda, Nielsen, Karen Cecilie, LuCamp, Grønskov, Karen, Brøndum-Nielsen, Karen
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 2012
• Subjects: Adult; Aged; Aged, 80 and over; Aging; ALS; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Child; Codon, Nonsense; Denmark; Exons; Genetic Association Studies; Glaucoma; Glaucoma, Open-Angle - genetics; Heterozygote; Humans; Internal Medicine; Male; Nervous system; Neurodegenerative diseases; Neurology; Nonsense mutation; Optineurin; OPTN; Superoxide dismutase; Transcription Factor TFIIIA - genetics; Denmark; Glaucoma; ALS; Amyotrophic lateral sclerosis; Optineurin; OPTN

Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. About 10% of ALS cases are familial (FALS) and the genetic defect is known only in approximately 20%–30% of these cases. The most common genetic cause of ALS is SOD1 (superoxide dismutase 1) mutation. Very rece...