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

ALS due to a novel TBK1 mutation in Brazil.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2022

Gondim Francisco de Assis Aquino, Fernandes José Marcelino Aragão, Marques Júnior Wilson

Abstract excerpt

TANK-binding kinase 1 (TBK1) gene mutations cause ALS and frontotemporal dementia (FTD). We report a novel TBK1 mutation in a Brazilian patient with ALS. Symptoms started at age 44 (lower-limb onset). Despite treatment with riluzole, his condition progressed over 5 years to aphemia, dysphagia, gastrostomy and tracheostomy. A diagnostic test panel for neurodegenerative disorders disclosed a novel likely pathogenic...

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 Brazil
Share to Frontotemporal Dementia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 35118923
DOI: 10.1080/21678421.2022.2028169

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ALS due to a novel TBK1 mutation in Brazil.PMID 35118923Read ↗

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

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

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 ↗

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

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

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.Semantic proximity Read ↗

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

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

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

Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline.Semantic proximity Read ↗

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