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

Behavioral variant frontotemporal dementia associated with a NEK1 missense variant: exploring a possible phenotypic association.

Neurogenetics - 23 Jun 2026

Totuk Ozlem, Sahin Sevki

Abstract excerpt

NEK1 variants are recognized genetic contributors to amyotrophic lateral sclerosis (ALS) and have occasionally been reported within the ALS-frontotemporal dementia (FTD) spectrum. However, their association with isolated behavioral variant frontotemporal dementia (bvFTD) remains unclear. Here, we describe a 69-year-old man who developed progressive behavioral symptoms beginning in his early 60s. Cognitive...

Topics

Join the communities discussing this publication.

Aged
Amyotrophic Lateral Sclerosis
Exome Sequencing
Frontotemporal Dementia
GRN gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Source

Identifiers

PMID: 42334646
DOI: 10.1007/s10048-026-00916-0

Genes

NEK1
GRN
MAPT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Behavioral variant frontotemporal dementia associated with a NEK1 missense variant: exploring a possible phenotypic association.PMID 42334646Read ↗

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.Semantic proximity Read ↗

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

Exploring the phenotypic spectrum of frontotemporal lobar degeneration.Semantic proximity Read ↗

Clinico-genetic findings in 509 frontotemporal dementia patients.Semantic proximity Read ↗

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.Semantic proximity Read ↗

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patientsSemantic proximity Read ↗

Behavioral variant frontotemporal dementia associated with GRN and ErbB4 gene mutations: a case report and literature review.Semantic proximity Read ↗

Incorporating new diagnostic schemas, genetics, and proteinopathy into the evaluation of frontotemporal degeneration.Semantic proximity Read ↗

Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis.Semantic proximity Read ↗

Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.Semantic proximity Read ↗

Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.Semantic proximity Read ↗

Clinical, Genetic, and Pathological Features of very Early Onset Frontotemporal Lobe Degeneration: A Systematic Review.Semantic proximity Read ↗

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