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Sökning: onr:"swepub:oai:DiVA.org:umu-193155" > Respiratory onset o...

  • Masrori, PegahDepartment of Neurology, Neuromuscular Reference Center, University Hospitals Leuven, Leuven, Belgium; Department of Neurosciences, Experimental Neurology, Leuven Brain Institute, KU Leuven-University of Leuven, Leuven, Belgium; Laboratory of Neurobiology, VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium (författare)

Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation

  • Artikel/kapitelEngelska2022

Förlag, utgivningsår, omfång ...

  • 2022-03-07
  • John Wiley & Sons,2022
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:umu-193155
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-193155URI
  • https://doi.org/10.1111/ene.15224DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • BACKGROUND AND PURPOSE: With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), the importance of gene testing in ALS is increasing. This will likely lead to the identification of new variants for which the pathogenicity is not established. We aimed to study the pathogenicity of a newly identified variant in superoxide dismutase 1 (SOD1).METHODS: Gene testing was performed using Sanger sequencing. SOD1 activity in erythrocytes was measured using spectrophotometry. Postmortem brain and spinal cord sections were stained with antibodies against phospho-TDP-43 and SOD1.RESULTS: We identified a novel c.416G>T (p.Gly139Val) mutation in SOD1, which caused a rapidly progressive respiratory onset form of ALS. The mutation resulted in a 50% drop of SOD1 activity. Postmortem examination confirmed the absence of TDP-43 pathology and displayed typical SOD1 inclusions in remaining motor neurons, confirming the pathogenic nature of the mutation.CONCLUSIONS: Novel variants of unknown pathogenicity will be identified as a result of a surge in gene testing in people with ALS. An in-depth study of a newly identified p.Gly139Val mutation in SOD1 confirmed the pathogenicity of this mutation. Future patients with this particular mutation should qualify for SOD1 silencing or editing therapies.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Ospitalieri, SimonaDepartment of Imaging and Pathology, KU Leuven, Leuven, Belgium; Department of Pathology, University Hospitals Leuven, Leuven, Belgium (författare)
  • Forsberg, KarinUmeå universitet,Patologi,Neurovetenskaper(Swepub:umu)nonkin02 (författare)
  • Moens, Thomas G.Department of Neurosciences, Experimental Neurology, Leuven Brain Institute, KU Leuven-University of Leuven, Leuven, Belgium; Laboratory of Neurobiology, VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium (författare)
  • Poesen, KoenLaboratory for Molecular Neurobiomarker Research, Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium; Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium (författare)
  • Race, ValerieLaboratory for Molecular Diagnosis, University Hospitals Leuven, Leuven, Belgium (författare)
  • Brännström, ThomasUmeå universitet,Neurovetenskaper(Swepub:umu)thbr0001 (författare)
  • Andersen, Peter M.,1962-Umeå universitet,Neurovetenskaper(Swepub:umu)pean0001 (författare)
  • Thal, Dietmar R.Department of Imaging and Pathology, KU Leuven, Leuven, Belgium; Department of Pathology, University Hospitals Leuven, Leuven, Belgium (författare)
  • Van Damme, PhilipDepartment of Neurology, Neuromuscular Reference Center, University Hospitals Leuven, Leuven, Belgium; Department of Neurosciences, Experimental Neurology, Leuven Brain Institute, KU Leuven-University of Leuven, Leuven, Belgium; Laboratory of Neurobiology, VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium (författare)
  • Department of Neurology, Neuromuscular Reference Center, University Hospitals Leuven, Leuven, Belgium; Department of Neurosciences, Experimental Neurology, Leuven Brain Institute, KU Leuven-University of Leuven, Leuven, Belgium; Laboratory of Neurobiology, VIB-KU Leuven Center for Brain and Disease Research, Leuven, BelgiumDepartment of Imaging and Pathology, KU Leuven, Leuven, Belgium; Department of Pathology, University Hospitals Leuven, Leuven, Belgium (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:European Journal of Neurology: John Wiley & Sons29:4, s. 1279-12831351-51011468-1331

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