FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
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...
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| Hauptverfasser: | , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2022
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| In: |
Neurogenetics
Year: 2022, Jahrgang: 23, Pages: 59-65 |
| ISSN: | 1364-6753 |
| DOI: | 10.1007/s10048-021-00671-4 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s10048-021-00671-4
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| Verfasserangaben: | David Brenner, Kathrin Müller, Serena Lattante, Rüstem Yilmaz, Antje Knehr, Axel Freischmidt, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt |
MARC
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| 245 | 1 | 0 | |a FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees |c David Brenner, Kathrin Müller, Serena Lattante, Rüstem Yilmaz, Antje Knehr, Axel Freischmidt, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt |
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| 520 | |a 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. | ||
| 650 | 4 | |a ALS | |
| 650 | 4 | |a Amyotrophic lateral sclerosis | |
| 650 | 4 | |a Frontotemporal dementia | |
| 650 | 4 | |a FTD | |
| 650 | 4 | |a FUS | |
| 650 | 4 | |a TBK1 | |
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