PMID: 8938700Oct 1, 1996Paper

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

Neuromuscular Disorders : NMD
B HoslerR H Brown

Abstract

Autosomal dominant inheritance is exhibited by about 10% of cases of amyotrophic lateral sclerosis (ALS), a paralytic disorder characterized by the death of motor neurons in the brain and spinal cord. A subgroup of these familial cases are linked to mutations in the gene which codes for Cu/Zn superoxide dismutase (SOD1). We report three additional mutations occurring in the SOD1 gene in ALS patients and two single base pair variant changes. The single base pair change in an ALS family causes a glycine 93 to valine substitution, which is the fifth distinct amino acid change reported for the glycine 93 residue. One missense mutation in exon 5 would substitute neutral valine for the negatively-charged aspartate 124 (aspartate 124 to valine). An individual with an apparently sporadic case of ALS carries a three base pair deletion in exon 5 of the SOD1 gene. These three mutations bring to 38 the total number of distinct SOD1 mutations associated with familial ALS.

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Citations

Mar 25, 2005·Journal of Neurology·Stefania BattistiniSilvana Penco
Aug 1, 1996·Journal of the Neurological Sciences·M E Cudkowicz, R H Brown
Dec 14, 1999·Journal of the Neurological Sciences·R W OrrellJ S deBelleroche
Apr 17, 2001·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Y WatanabeK Nakashima
Jul 15, 2009·Experimental Biology and Medicine·Sai V SeetharamanP John Hart
Jun 23, 2011·Journal of Neurochemistry·Marjatta SonJeffrey L Elliott
Mar 31, 2015·The International Journal of Biochemistry & Cell Biology·Vedrana Bali, Zsuzsanna Bebok
Nov 20, 2009·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Lan Zhou, Erik P Pioro
Apr 4, 2018·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Yanran LiXusheng Huang
May 1, 2010·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Fusun BaumannRobert D Henderson
May 26, 2017·Cellular & Molecular Biology Letters·Rafal BartoszewskiJames F Collawn
Mar 24, 2021·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Anna-Gaelle Giguet-ValardCyril Goizet
Mar 27, 2021·Journal of Neurology·Anna Bartoletti-StellaUNKNOWN BoReALS

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