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Putative founder effect in the Polish, Iranian and United States populations for the L144SSOD1mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis
Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Neurovetenskaper.
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2021 (Engelska)Ingår i: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, E-ISSN 2167-9223, Vol. 22, nr 1-2, s. 80-85Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Mutations inSOD1cause approximately 12-25% of familial ALS and approximate to 2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin.

Ort, förlag, år, upplaga, sidor
Taylor & Francis, 2021. Vol. 22, nr 1-2, s. 80-85
Nyckelord [en]
Amyotrophic lateral sclerosis, SOD1, mutation, L144S, STR markers
Nationell ämneskategori
Neurologi
Identifikatorer
URN: urn:nbn:se:umu:diva-174628DOI: 10.1080/21678421.2020.1803359ISI: 000557954800001PubMedID: 32777948Scopus ID: 2-s2.0-85089293497OAI: oai:DiVA.org:umu-174628DiVA, id: diva2:1462676
Forskningsfinansiär
VetenskapsrådetTillgänglig från: 2020-08-31 Skapad: 2020-08-31 Senast uppdaterad: 2021-07-09Bibliografiskt granskad

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Andersen, Peter M.Berdynski, Mariusz

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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Neurologi

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Totalt: 174 träffar
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