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000169125 1001_ $$00000-0001-8670-0419$$aFahmy, Nagia$$b0
000169125 245__ $$aA novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity.
000169125 260__ $$aBerlin$$bSpringer$$c2023
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000169125 520__ $$aThe dose-effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We report a novel homozygous SOD1 mutation with decreased enzymatic activity and severe early onset ALS phenotype.Whole exome sequencing and targeted screening of commonly implicated genes were conducted. Repeat-primed PCR and fragment length analysis were used for C9orf72. Bi-directional Sanger sequencing was used for SOD1 and other genes. SOD1 activity was measured by direct spectrophotometry. Serum neurofilament light chain level was measured by the ELLA immunoassay system.The homozygous patient for a novel SOD1 variant p.Ser69Pro showed poor SOD1 enzymatic activity (16% of controls) and an early onset ALS phenotype predominantly affecting lower motor neurons with rapid involvement of the trunk, upper limbs and bulbar muscles. The asymptomatic heterozygous relatives had at least 68% of normal enzyme activity. Level of serum neurofilament light chain was much higher (148 pg/ml) in the patient than the relatives who had normal levels (6-10 pg/ml).This novel mutation adds knowledge to the ALS genotype-phenotype spectrum and supports the strong dose-effect of SOD1 mutations associated with severely decreased enzymatic activity.
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000169125 542__ $$2Crossref$$i2022-12-06$$uhttps://creativecommons.org/licenses/by/4.0
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000169125 650_7 $$0EC 1.15.1.1$$2NLM Chemicals$$aSuperoxide Dismutase-1
000169125 650_7 $$2Other$$aEnzyme activity
000169125 650_7 $$2Other$$aHomozygous
000169125 650_7 $$2Other$$aNovel mutation
000169125 650_7 $$2Other$$aSOD1
000169125 650_7 $$2Other$$aYoung-onset
000169125 650_7 $$0EC 1.15.1.1$$2NLM Chemicals$$aSuperoxide Dismutase
000169125 650_7 $$2NLM Chemicals$$aSOD1 protein, human
000169125 650_2 $$2MeSH$$aHumans
000169125 650_2 $$2MeSH$$aSuperoxide Dismutase-1: genetics
000169125 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000169125 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: diagnosis
000169125 650_2 $$2MeSH$$aMutation
000169125 650_2 $$2MeSH$$aHomozygote
000169125 650_2 $$2MeSH$$aMotor Neurons
000169125 650_2 $$2MeSH$$aSuperoxide Dismutase: genetics
000169125 7001_ $$0P:(DE-HGF)0$$aMüller, Kathrin$$b1
000169125 7001_ $$aAndersen, Peter Munch$$b2
000169125 7001_ $$aMarklund, Stefan L$$b3
000169125 7001_ $$aOtto, Markus$$b4
000169125 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert$$b5
000169125 7001_ $$aHamdi, Nabila$$b6
000169125 77318 $$2Crossref$$3journal-article$$a10.1007/s00415-022-11489-x$$bSpringer Science and Business Media LLC$$d2022-12-06$$n3$$p1770-1773$$tJournal of Neurology$$v270$$x0340-5354$$y2022
000169125 773__ $$0PERI:(DE-600)1421299-7$$a10.1007/s00415-022-11489-x$$n3$$p1770-1773$$tJournal of neurology$$v270$$x0340-5354$$y2023
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000169125 999C5 $$1S Marklund$$2Crossref$$9-- missing cx lookup --$$a10.1016/S0021-9258(17)32878-8$$p7504 -$$tJ Biol Chem$$uMarklund S (1976) Spectrophotometric study of spontaneous disproportionation of superoxide anion radical and sensitive direct assay for superoxide dismutase. J Biol Chem 251(23):7504–7507$$v251$$y1976
000169125 999C5 $$1T Miller$$2Crossref$$9-- missing cx lookup --$$a10.1056/NEJMoa2003715$$p109 -$$tN Engl J Med$$uMiller T, Cudkowicz M, Shaw PJ et al (2020) Phase 1–2 trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med 383:109–119$$v383$$y2020
000169125 999C5 $$1C Mueller$$2Crossref$$9-- missing cx lookup --$$a10.1056/NEJMoa2005056$$p151 -$$tN Engl J Med$$uMueller C, Berry JD, McKenna-Yasek DM et al (2020) SOD1 suppression with Adeno-Associated Virus and MicroRNA in familial ALS. N Engl J Med 383:151–158$$v383$$y2020
000169125 999C5 $$1PM Andersen$$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/120.10.1723$$p1723 -$$tBrain$$uAndersen PM, Nilsson P, Keranen ML et al (1997) Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 120(Pt 10):1723–1737$$v120$$y1997
000169125 999C5 $$1M Kato$$2Crossref$$9-- missing cx lookup --$$a10.1016/S0304-3940(01)02212-1$$p165 -$$tNeurosci Lett$$uKato M, Aoki M, Ohta M et al (2001) Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation. Neurosci Lett 312:165–168$$v312$$y2001
000169125 999C5 $$1C Hayward$$2Crossref$$9-- missing cx lookup --$$a10.1136/jmg.35.2.174$$p174 -$$tJ Med Genet$$uHayward C, Brock DJ, Minns RA, Swingler RJ (1998) Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. J Med Genet 35:174$$v35$$y1998
000169125 999C5 $$1A Ozoguz$$2Crossref$$uOzoguz A, Uyan O, Birdal G et al (2015) The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging 36(1764):e9–e18$$y2015
000169125 999C5 $$1D Gagliardi$$2Crossref$$9-- missing cx lookup --$$a10.1212/NXG.0000000000000645$$tNeurol Genet$$uGagliardi D, Ahmadinejad M, Del-Bo R et al (2022) Homozygous SOD1 variation L144S produces a severe form of amyotrophic lateral sclerosis in an Iranian family. Neurol Genet 8:e645$$v8$$y2022