TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
Abstract
TANK1-binding kinase 1 (TBK1) has been recently identified as a new amyotrophic lateral sclerosis (ALS) gene. Loss-of-function (LoF) mutations in TBK1 could be responsible for 0.4%-4% of ALS. Considering the strong genetic overlap existing between frontotemporal dementia (FTD) and ALS, we have evaluated the frequencies of TBK1 mutations in a cohort of French FTD and of ALS patients. We identified 5 LoF mutations, in 4 FTD-ALS and 1 ALS patients. We also identified 5 heterozygous missense variants, predicted to be deleterious, in 1 isolated FTD, 1 FTD-ALS, and 3 ALS cases. Our results demonstrate that TBK1 loss-of-function mutations are more frequent in patients with FTD-ALS (10.8%) than in isolated ALS. TBK1 should thus also be sequenced, after exclusion of C9orf72 mutation, in patients presenting FTD, particularly in cases secondarily associated with ALS.
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TBK1 mutations occur more frequently in patients with combined ALS-FTD than in those with ALS alone.
“Supporting the link between ALS and FTD, TBK1 mutations have also been identified in FTD patients, and in fact occur more frequently in patients with combined ALS-FTD than in those with ALS alone [207–209].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [208]
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Unveiling a rare case: Novel TBK1 variant mimicking as multiple system atrophy-like phenotype
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Minding the gates: dual cell-autonomous and non-cell-autonomous mechanisms of TBK1 in ALS/FTD
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- Authors
- Le Ber, I., De Septenville, A., Millecamps, S., Camuzat, A., Caroppo, P., Couratier, P., Blanc, F., Lacomblez, L., Sellal, F., Fleury, M.-C., Meininger, V., Cazeneuve, C., Clot, F., Flabeau, O., LeGuern, E., Brice, A., Auriacombe, S., Brice, A., Blanc, F., Couratier, P., Didic, M., Dubois, B., Golfier, V., Hannequin, D., Lacomblez, L., Le Ber, I., Levy, R., Meininger, V., Michel, B.-F., Pasquier, F., Thomas-Anterion, C., Puel, M., Salachas, F., Sellal, F., & Vercelletto, M.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Inserm (FR)
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2015-11
- Volume
- 36
- Issue
- 11
- Pages
- 3116.e5-3116.e8
- ISSN
- 0197-4580 (ISSN-L)
- OpenAlex
- W1767107461
- Cited by
- 89
- References
- 11
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 4 · 2022: 14 · 2021: 8 · 2020: 13 · 2019: 7 · 2018: 10 · 2017: 12 · 2016: 13
- FWCI
- 8.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurobiology of Aging (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Association pour la Recherche sur la Sclérose Latérale Amyotrophique et autres Maladies du Motoneurone
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- TBK1, frontotemporal dementia, amyotrophic lateral sclerosis, loss-of-function mutations, missense mutations, genetic susceptibility, C9orf72, genetic testing
- MeSH terms
- Amyotrophic Lateral Sclerosis, France, Humans, Mutation, Cohort Studies, Protein Serine-Threonine Kinases, Genetic Association Studies, Frontotemporal Dementia, Mutation Rate
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