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Mutations in SOD1 can cause amyotrophic lateral sclerosis, probably via a toxic gain-of-function involving protein aggregation and prion-like mechanisms. Recently, homozygosity for loss-of-function mutations in SOD1 has been reported in patients presenting with infantile-onset motor neuron disease. We explored the bodily effects of superoxide dismutase-1 enzymatic deficiency in eight children homozygous for the p.C112Wfs*11 truncating mutation. In addition to physical and imaging examinations, we collected blood, urine and skin fibroblast samples. We used a comprehensive panel of clinically established analyses to assess organ function and analysed oxidative stress markers, antioxidant compounds, and the characteristics of the mutant Superoxide dismutase-1. From around 8 months of age, all patients exhibited progressive signs of both upper and lower motor neuron dysfunction, cerebellar, brain stem, and frontal lobe atrophy and elevated plasma neurofilament concentration indicating ongoing axonal damage. The disease progression seemed to slow down over the following years. The p.C112Wfs*11 gene product is unstable, rapidly degraded and no aggregates were found in fibroblast. Most laboratory tests indicated normal organ integrity and only a few modest deviations were found. The patients displayed anaemia with shortened survival of erythrocytes containing decreased levels of reduced glutathione. A variety of other antioxidants and oxidant damage markers were within normal range. In conclusion, non-neuronal organs in humans show a remarkable tolerance to absence of Superoxide dismutase-1 enzymatic activity. The study highlights the enigmatic specific vulnerability of the motor system to both gain-of-function mutations in SOD1 and loss of the enzyme as in the here depicted infantile superoxide dismutase-1 deficiency syndrome.<\/jats:p>","DOI":"10.1093\/braincomms\/fcad017","type":"journal-article","created":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T04:59:04Z","timestamp":1674622744000},"source":"Crossref","is-referenced-by-count":15,"title":["The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2305-9948","authenticated-orcid":false,"given":"Julien H","family":"Park","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences, Neurosciences, Ume\u00e5 University , 901 87 Ume\u00e5 , Sweden"},{"name":"Department of General Paediatrics, University of M\u00fcnster , 48149 M\u00fcnster , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrika","family":"Nordstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Neurosciences, Ume\u00e5 University , 901 87 Ume\u00e5 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Tsiakas","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University Medical Centre Hamburg-Eppendorf , 20251 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isil","family":"Keskin","sequence":"additional","affiliation":[{"name":"Department of Medical Biosciences, Pathology, Ume\u00e5 University , 901 85 Ume\u00e5 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Elpers","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics, University of M\u00fcnster , 48149 M\u00fcnster , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj","family":"Mannil","sequence":"additional","affiliation":[{"name":"Clinic for Radiology, University Hospital M\u00fcnster, WWU University of M\u00fcnster , 48149 M\u00fcnster , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul","family":"Heller","sequence":"additional","affiliation":[{"name":"Starship Children\u2019s Health, Auckland City Hospital , Auckland 1142 , New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melinda","family":"Nolan","sequence":"additional","affiliation":[{"name":"Starship Children\u2019s Health, Auckland City Hospital , Auckland 1142 , New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salam","family":"Alburaiky","sequence":"additional","affiliation":[{"name":"Starship Children\u2019s Health, Auckland City Hospital , Auckland 1142 , New 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Praxis f\u00fcr Humangenetik T\u00fcbingen , 72076 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Steinacker","sequence":"additional","affiliation":[{"name":"Department of Neurology, Martin-Luther-University Halle-Wittenberg , 06120 Halle (Saale) , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Otto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Martin-Luther-University Halle-Wittenberg , 06120 Halle (Saale) , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Weishaupt","sequence":"additional","affiliation":[{"name":"Division for Neurodegenerative Diseases, Department of Neurology, Medical Faculty Mannheim, University of Heidelberg , 68167 Mannheim , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Justus Liebig University , 35392 Giessen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University Medical Centre Hamburg-Eppendorf , 20251 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics, University of M\u00fcnster , 48149 M\u00fcnster , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan L","family":"Marklund","sequence":"additional","affiliation":[{"name":"Department of Medical Biosciences, Clinical Chemistry, Ume\u00e5 University , 901 87 Ume\u00e5 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Neurosciences, Ume\u00e5 University , 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