Umeå universitets logga

umu.sePublikationer
Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
Division of Neurodegeneration, Department of Neurology, Mannheim Center for Translational Neurosciences (MCTN), Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Department of Neurology, University of Ulm, Ulm, Germany.
Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Unit of Medical Genetics, Department of Laboratory and Infectious Disease Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Division of Neurodegeneration, Department of Neurology, Mannheim Center for Translational Neurosciences (MCTN), Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Visa övriga samt affilieringar
2022 (Engelska)Ingår i: Neurogenetics, ISSN 1364-6745, E-ISSN 1364-6753, Vol. 23, s. 59-65Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Mutations in FUS and TBK1 often cause aggressive early-onset amyotrophic lateral sclerosis (ALS) or a late-onset ALS and/or frontotemporal dementia (FTD) phenotype, respectively. Co-occurrence of mutations in two or more Mendelian ALS/FTD genes has been repeatedly reported. However, little is known how two pathogenic ALS/FTD mutations in the same patient interact to shape the final phenotype. We screened 28 ALS patients with a known FUS mutation by whole-exome sequencing and targeted evaluation for mutations in other known ALS genes followed by genotype–phenotype correlation analysis of FUS/TBK1 double-mutant patients. We report on new and summarize previously published FUS and TBK1 double-mutant ALS/FTD patients and their families. We found that, within a family, mutations in FUS cause ALS while TBK1 single mutations are observed in FTD patients. FUS/TBK1 double mutations manifested as ALS and without a manifest difference regarding age at onset and disease duration when compared to FUS single-mutant individuals. In conclusion, TBK1 and FUS variants do not seem to interact in a simple additive way. Rather, the phenotype of FUS/TBK1 double-mutant patients appears to be dominated by the FUS mutation.

Ort, förlag, år, upplaga, sidor
Springer, 2022. Vol. 23, s. 59-65
Nyckelord [en]
ALS, Amyotrophic lateral sclerosis, Frontotemporal dementia, FTD, FUS, TBK1
Nationell ämneskategori
Neurovetenskaper
Identifikatorer
URN: urn:nbn:se:umu:diva-187747DOI: 10.1007/s10048-021-00671-4ISI: 000695379700001PubMedID: 34518945Scopus ID: 2-s2.0-85114806239OAI: oai:DiVA.org:umu-187747DiVA, id: diva2:1595736
Tillgänglig från: 2021-09-20 Skapad: 2021-09-20 Senast uppdaterad: 2022-07-12Bibliografiskt granskad

Open Access i DiVA

fulltext(742 kB)75 nedladdningar
Filinformation
Filnamn FULLTEXT02.pdfFilstorlek 742 kBChecksumma SHA-512
3bab2cab69fc45291fc26479be5b80aa598caca57f5cb94b1cb578b352953364c438b8d506ec15143141ec01c6495ac4e7b5eb29b76f0723b75c2428828c8109
Typ fulltextMimetyp application/pdf

Övriga länkar

Förlagets fulltextPubMedScopus

Person

Andersen, Peter M.

Sök vidare i DiVA

Av författaren/redaktören
Andersen, Peter M.
Av organisationen
Neurovetenskaper
I samma tidskrift
Neurogenetics
Neurovetenskaper

Sök vidare utanför DiVA

GoogleGoogle Scholar
Totalt: 97 nedladdningar
Antalet nedladdningar är summan av nedladdningar för alla fulltexter. Det kan inkludera t.ex tidigare versioner som nu inte längre är tillgängliga.

doi
pubmed
urn-nbn

Altmetricpoäng

doi
pubmed
urn-nbn
Totalt: 181 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf