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Article

Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.

Neurobiology of aging - 1 Mar 2021

Swift Imogen J, Bocchetta Martina, Benotmane Hanya, Woollacott Ione Oc, Shafei Rachelle, Rohrer Jonathan D

Abstract excerpt

TANK-binding kinase 1 (TBK1) mutations are a recently discovered cause of disorders in the frontotemporal dementia (FTD)-amyotrophic lateral sclerosis (ALS) spectrum. We describe a novel L683∗ mutation, predicted to cause a truncated protein and therefore be pathogenic, in a patient presenting with nonfluent variant primary progressive aphasia at the age of 65 years. Her disease progressed over the following...

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Identifiers

PMID: 32980182
DOI: 10.1016/j.neurobiolaging.2020.08.014
PMCID: PMC7907669

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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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