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

Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome.

Acta neurologica Scandinavica - 1 Apr 2022

Arshad Faheem, Vengalil Seena, Nalini Atchayaram, Polavarapu Kiran, Shamim Uzma, Jabeen Shumyla, Nagaraj Chandana, Ramakrishnan Subasree, Faruq Mohammad, Alladi Suvarna

Abstract excerpt

BACKGROUND: Recently, TANK binding kinase 1 (TBK1) mutation has been reported as a causative gene for overlap frontotemporal dementia (FTD)-amyotrophic lateral sclerosis (ALS) syndrome. However, there are no reports from families of South Asian ethnicity. OBJECTIVE: To report a case study of a family with the proband having overlap FTD-ALS syndrome caused by a novel TBK1 variant. MATERIALS AND METHODS: Clinical,...

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 Frontotemporal Dementia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Mutation

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 34841512
DOI: 10.1111/ane.13562

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome.PMID 34841512Read ↗

Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis.Semantic proximity Read ↗

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

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

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.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 ↗

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.Semantic proximity Read ↗

Behavioral variant frontotemporal dementia associated with a NEK1 missense variant: exploring a possible phenotypic association.Semantic proximity Read ↗

Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.Semantic proximity Read ↗

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

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.Semantic proximity Read ↗

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

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

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