Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

doi:10.1093/brain/awv358

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Article

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Brain : a journal of neurology - 1 Feb 2016

Van Mossevelde Sara, van der Zee Julie, Gijselinck Ilse, Engelborghs Sebastiaan, Sieben Anne, Van Langenhove Tim, De Bleecker Jan, Baets Jonathan, Vandenbulcke Mathieu, Van Laere Koen, Ceyssens Sarah, Van den Broeck Marleen, Peeters Karin, Mattheijssens Maria, Cras Patrick, Vandenberghe Rik, De Jonghe Peter, Martin Jean-Jacques, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christine

Abstract excerpt

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...

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Identifiers

PMID: 26674655
DOI: 10.1093/brain/awv358
PMCID: PMC4805085

Genes

TBK1
GRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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