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FUS mutations domin...
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
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- Brenner, David (författare)
- Division of Neurodegeneration, Department of Neurology, Mannheim Center for Translational Neurosciences (MCTN), Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany
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- Müller, Kathrin (författare)
- Department of Neurology, University of Ulm, Ulm, Germany
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- Lattante, Serena (författare)
- 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
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- Yilmaz, Rüstem (författare)
- Division of Neurodegeneration, Department of Neurology, Mannheim Center for Translational Neurosciences (MCTN), Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany
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- Knehr, Antje (författare)
- 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
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- Freischmidt, Axel (författare)
- Department of Neurology, University of Ulm, Ulm, Germany
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- Ludolph, Albert C. (författare)
- Department of Neurology, University of Ulm, Ulm, Germany
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- Andersen, Peter M., 1962- (författare)
- Umeå universitet,Neurovetenskaper
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- Weishaupt, Jochen H. (författare)
- Division of Neurodegeneration, Department of Neurology, Mannheim Center for Translational Neurosciences (MCTN), Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany
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(creator_code:org_t)
- 2021-09-13
- 2022
- Engelska.
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Ingår i: Neurogenetics. - : Springer. - 1364-6745 .- 1364-6753. ; 23, s. 59-65
- Relaterad länk:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Nyckelord
- ALS
- Amyotrophic lateral sclerosis
- Frontotemporal dementia
- FTD
- FUS
- TBK1
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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