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Article

[A Pair of Siblings with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis and a Novel Thr462Lysfs Mutation in the TBK1 Gene].

Fortschritte der Neurologie-Psychiatrie - 1 Aug 2016

Schönecker S, Brendel M, van der Zee J, van Broeckhoven C, Rominger A, Danek A, Levin J

Abstract excerpt

We report on a pair of siblings with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) and a novel Thr462Lysfs mutation in the TANK-binding kinase 1 (TBK1) gene identified through the European Early-Onset Dementia Consortium. The patients presented at the age of 77 and 75 years and displayed dementia and bulbar symptoms as well as progressive paresis. After a progressive course, both of them...

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Source

Identifiers

PMID: 27570907
DOI: 10.1055/s-0042-110653

Genes

TBK1
TANK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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