Clinical features of TBK1 carriers compared with C9orf72,GRN and non-mutation carriers in a Belgian cohort
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We identified in a cohort of patients with frontotemporal dementia (n = 481) or amyotrophic lateral sclerosis (n = 147), 10 index patients carrying a TBK1 loss of function mutation reducing TBK1 expression by 50%. Here, we describe the clinical and pathological characteristics of the 10 index patients and six of their affected relatives carrying a TBK1 mutation. Six TBK1 carriers were diagnosed with frontotemporal dementia, seven with amyotrophic lateral sclerosis, one with both clinical phenotypes and two with dementia unspecified. The mean age at onset of all 16 TBK1 carriers was 62.1 ± 8.9 years (range 41-73) with a mean disease duration of 4.7 ± 4.5 years (range 1-13). TBK1 carriers with amyotrophic lateral sclerosis had shorter disease duration than carriers with frontotemporal dementia. Six of seven TBK1 carriers were diagnosed with the behavioural variant of frontotemporal dementia, presenting predominantly as disinhibition. Memory loss was an important associated symptom in the initial phase of the disease in all but one of the carriers with frontotemporal dementia. Three of the patients with amyotrophic lateral sclerosis exhibited pronounced upper motor neuron symptoms. Overall, neuroimaging displayed widespread atrophy, both symmetric and asymmetric. Brain perfusion single-photon emission computed tomography or fluorodeoxyglucose-positron emission tomography showed asymmetric and predominantly frontotemporal involvement. Neuropathology in two patients demonstrated TDP-43 type B pathology. Further, we compared genotype-phenotype data of TBK1 carriers with frontotemporal dementia (n = 7), with those of frontotemporal dementia patients with a C9orf72 repeat expansion (n = 65) or a GRN mutation (n = 52) and with frontotemporal dementia patients (n = 259) negative for mutations in currently known causal genes. TBK1 carriers with frontotemporal dementia had a later age at onset (63.3 years) than C9orf72 carriers (54.3 years) (P = 0.019). In clear contrast with TBK1 carriers, GRN carriers were more often diagnosed with the language variant than the behavioural variant, and presented in case of the diagnosis of behavioural variant, more often than TBK1 carriers with apathy as the predominant characteristic (P = 0.004). Also, TBK1 carriers exhibited more often extrapyramidal symptoms than C9orf72 carriers (P = 0.038). In conclusion, our study identified clinical differences between the TBK1, C9orf72 and GRN carriers, which allows us to formulate guidelines for genetic diagnosis. After a negative result for C9orf72, patients with both frontotemporal dementia and amyotrophic lateral sclerosis should be tested first for mutations in TBK1. Specifically in frontotemporal dementia patients with early memory difficulties, a relatively late age at onset or extrapyramidal symptoms, screening for TBK1 mutations should be considered.
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Neuropathological analysis of CNS tissue from ALS patients with TBK1 mutations shows SQSTM1- and TARDBP-positive inclusions in motor neurons and glia, along with reduced TBK1 mRNA and protein, suggesting haploinsufficiency mechanisms.
“Neuropathological analysis of CNS tissue from ALS patients with TBK1 mutations shows SQSTM1- and TARDBP-positive inclusions in motor neurons and glia [206,210,211], along with reduced TBK1 mRNA and protein, suggesting haploinsufficiency mechanisms [205,206].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [211]
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- Authors
- Van Mossevelde, S., van der Zee, J., Gijselinck, I., Engelborghs, S., Sieben, A., Van Langenhove, T., De Bleecker, J., Baets, J., Vandenbulcke, M., Van Laere, K., Ceyssens, S., Van den Broeck, M., Peeters, K., Mattheijssens, M., Cras, P., Vandenberghe, R., De Jonghe, P., Martin, J.-J., De Deyn, P. P., Cruts, M., & Van Broeckhoven, C.
- Affiliations
- University of Antwerp (BE)
- Universitair Ziekenhuis Leuven (BE)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-12-15
- Volume
- 139
- Issue
- 2
- Pages
- 452-467
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC4805085
- OpenAlex
- W2213215651
- Cited by
- 98
- References
- 50
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 7 · 2023: 3 · 2022: 12 · 2021: 15 · 2020: 7 · 2019: 15 · 2018: 12 · 2017: 12 · 2016: 6
- FWCI
- 7.02
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Brain (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, cc-by)
- Lirias (submittedVersion, other-oa)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- DIAL (Catholic University of Leuven) (submittedVersion, other-oa)
- HighWire Press Open Archive (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Funders
- MetLife Foundation
- Rijksuniversiteit Groningen
- Belgian Federal Science Policy Office
- Fondation pour la Recherche Médicale
- Fonds Wetenschappelijk Onderzoek
- Universitair Medisch Centrum Groningen
- Universiteit Antwerpen
- Vlaamse regering
- Instituut Born-Bunge
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- TBK1, loss-of-function mutations, frontotemporal dementia, amyotrophic lateral sclerosis, C9orf72 repeat expansion, GRN mutations, genotype-phenotype correlation, behavioral variant frontotemporal dementia, TDP-43 pathology, age of onset, disease duration, brain atrophy, neuroimaging
- MeSH terms
- C9orf72 Protein, Progranulins, Adult, Aged, Amyotrophic Lateral Sclerosis, Belgium, Female, Heterozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Proteins, Cohort Studies, Protein Serine-Threonine Kinases, Intercellular Signaling Peptides and Proteins, Frontotemporal Dementia
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