Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Neurobiology of aging - 1 Feb 2018

Wilke Carlo, Baets Jonathan, De Bleecker Jan L, Deconinck Tine, Biskup Saskia, Hayer Stefanie N, Züchner Stephan, Schüle Rebecca, De Jonghe Peter, Synofzik Matthis

Abstract excerpt

Mutations in the TANK-binding kinase 1 gene (TBK1) are a rare, but recurrent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the complete phenotypic spectrum of syndromes associated with TBK1 mutations remains to be elucidated. Using next-generation panel-sequencing of neurodegenerative disease genes, we identified a TBK1 index patient presenting with a progressive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis
Share to Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellar Ataxia

Share to Cerebellum

Share to Frontotemporal Dementia

Share to Mesencephalon

Share to Neuroimaging

Share to Supranuclear Palsy, Progressive

Source

Identifiers

PMID: 29137817
DOI: 10.1016/j.neurobiolaging.2017.10.010

Genes

TBK1
TANK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.PMID 29137817Read ↗

A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes.Semantic proximity Read ↗

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.Semantic proximity Read ↗

TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers.Semantic proximity Read ↗

Clinicopathologic correlations in a family with aTBK1mutation presenting as primary progressive aphasia and primary lateral sclerosisSemantic proximity Read ↗

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

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

18F-APN-1607 Tau PET in Progressive Supranuclear Palsy-Like Symptoms Caused by TBK1 MutationsSemantic proximity Read ↗

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Semantic proximity Read ↗

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.Semantic proximity Read ↗

ALS due to a novel TBK1 mutation in Brazil.Semantic proximity Read ↗

TDP-43 subcellular mislocalisation is correlated with loss of optineurin binding for frontotemporal dementia and amyotrophic lateral sclerosis associated <i>TBK1</i> missense variantsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.