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frontotemporal dementia and/or amyotrophic lateral sclerosis 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

frontotemporal dementia and/or amyotrophic lateral sclerosis 4

MONDO:0014641

Also known as:FTDALS4frontotemporal dementia and/or amyotrophic lateral sclerosis type 4

Overview

An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.

GeneticsAutosomal dominant · TBK1 (chr 12)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Abnormal lower motor neuron morphology, Hyporeflexia, Mutism, and Skeletal muscle atrophy and 13 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Hyporeflexia, Mutism, Difficulty swallowing (dysphagia)

Genetic Landscape

TBK1 function has not been fully characterized.

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 is caused by mutations in the TBK1 gene on chromosome 12.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for TBK1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for frontotemporal dementia and/or amyotrophic lateral sclerosis 4 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for frontotemporal dementia and/or amyotrophic lateral sclerosis 4.

270 publications have been identified in PubMed for frontotemporal dementia and/or amyotrophic lateral sclerosis 4. Research spans Basic Science / Preclinical (36%), Review / Meta-Analysis (24%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Laboratory research	97	36%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616439

GARD

Genetic and Rare Diseases Info Center

GARD:18398

Questions for Your Care Team

→Should I pursue genetic testing for TBK1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications