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Brief Report

A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia

ORCID Icon, , , , , & show all
Pages 535-538 | Received 29 Dec 2022, Accepted 06 Mar 2023, Published online: 19 Mar 2023

References

  • Al-Chalabi A, van den Berg LH, Veldink J. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol. 2017;13:96–104.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet. 1995;10:61–6.
  • Garg N, Park SB, Vucic S, Yiannikas C, Spies J, Howells J, et al. Differentiating lower motor neuron syndromes. J Neurol Neurosurg Psychiatry. 2017;88:474–83.
  • Andersen PM, Nordstrom U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, et al. Phenotype in an infant with SOD1 homozygous truncating mutation. N Engl J Med. 2019;381:486–8.
  • Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, et al. SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis. Brain. 2019;142:2230–7.
  • de Souza PVS, Pinto W, Farias IB, Badia BML, Pinto IFN, Costa GC, et al. Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity? Orphanet J Rare Dis. 2021;16:360.
  • Ezer S, Daana M, Park JH, Yanovsky-Dagan S, Nordstrom U, Basal A, et al. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity. Brain. 2022;145:872–8.
  • Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, et al. Phase 1-2 trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med. 2020;383:109–19.
  • Morikawa D, Nojiri H, Itoigawa Y, Ozawa Y, Kaneko K, Shimizu T. Antioxidant treatment with vitamin C attenuated rotator cuff degeneration caused by oxidative stress in Sod1-deficient mice. JSES Open Access. 2018;2:91–6.

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