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@ARTICLE{Fahmy:169125,
      author       = {Fahmy, Nagia and Müller, Kathrin and Andersen, Peter Munch
                      and Marklund, Stefan L and Otto, Markus and Ludolph, Albert
                      and Hamdi, Nabila},
      title        = {{A} novel homozygous p.{S}er69{P}ro {SOD}1 mutation causes
                      severe young-onset {ALS} with decreased enzyme activity.},
      journal      = {Journal of neurology},
      volume       = {270},
      number       = {3},
      issn         = {0340-5354},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {DZNE-2023-00004},
      pages        = {1770-1773},
      year         = {2023},
      note         = {ISSN 1432-1459 not unique: **2 hits**.},
      abstract     = {The 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.},
      keywords     = {Humans / Superoxide Dismutase-1: genetics / Amyotrophic
                      Lateral Sclerosis: genetics / Amyotrophic Lateral Sclerosis:
                      diagnosis / Mutation / Homozygote / Motor Neurons /
                      Superoxide Dismutase: genetics / Superoxide Dismutase-1 (NLM
                      Chemicals) / Enzyme activity (Other) / Homozygous (Other) /
                      Novel mutation (Other) / SOD1 (Other) / Young-onset (Other)
                      / Superoxide Dismutase (NLM Chemicals) / SOD1 protein, human
                      (NLM Chemicals)},
      cin          = {Clinical Study Center Ulm},
      ddc          = {610},
      cid          = {I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9971132},
      pubmed       = {pmid:36472686},
      doi          = {10.1007/s00415-022-11489-x},
      url          = {https://pub.dzne.de/record/169125},
}