ALS Gene Library

TBK1

TANK-Binding Kinase 1

Pathogenic loss-of-function variants in TBK1 are associated with ALS, FTD, and ALS-FTD spectrum disease.

TBK1 is involved in cellular pathways including autophagy and innate immune signaling.

Penetrance and clinical presentation should be described conservatively and in the context of the specific variant.

Sources: Amyotrophic Lateral Sclerosis Overview · Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Associated conditions

  • ALS
  • FTD
  • ALS-FTD

Sources: Amyotrophic Lateral Sclerosis Overview

ALS / FTD relationship

TBK1-associated disease can present as ALS, FTD, or an ALS-FTD spectrum phenotype.

Sources: Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis · Amyotrophic Lateral Sclerosis Overview

Typical inheritance pattern

Typically autosomal dominant.

Sources: Amyotrophic Lateral Sclerosis Overview

Penetrance

Reduced and age-dependent penetrance has been reported.

A universal percentage should not be used without a current primary source and variant context.

Sources: Amyotrophic Lateral Sclerosis Overview

Clinical presentation

Clinical presentation can include ALS, FTD, or both, with variability between families and variants.

Sources: Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis · Amyotrophic Lateral Sclerosis Overview

Genetic testing considerations

TBK1 testing should be interpreted with attention to variant type, loss-of-function evidence, family history, and the clinical phenotype.

Sources: Amyotrophic Lateral Sclerosis Overview

Biomarkers

No TBK1-specific biomarker is presented here as a validated predictor of onset or individual disease course. Biomarker research remains an active area of ALS-FTD investigation.

Sources: Amyotrophic Lateral Sclerosis Overview

Available treatments

There is currently no FDA-approved treatment specifically targeting TBK1-associated ALS.

Sources: Amyotrophic Lateral Sclerosis Overview

Clinical trials

Search TBK1 ALS studies

Sources: ClinicalTrials.gov: Amyotrophic Lateral Sclerosis studies

Presymptomatic research

Presymptomatic research may be available for selected families or variants. Eligibility should be checked directly with the study team and current registry record.

Search TBK1 studies on ClinicalTrials.gov

Sources: ClinicalTrials.gov: Amyotrophic Lateral Sclerosis studies

Current research

Current research includes TBK1 biology, autophagy, innate immune signaling, variant interpretation, and ALS-FTD disease mechanisms.

Sources: Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Key research institutions / studies

ClinicalTrials.gov provides the current registry for locating TBK1-related studies; availability and eligibility change over time.

Open the TBK1 study registry

Sources: ClinicalTrials.gov: Amyotrophic Lateral Sclerosis studies

Sources & Further Reading

These source cards link directly to the original material. External websites open in a new tab.

This information is for education and does not replace individualized medical advice, genetic counseling, diagnosis, or treatment. Genetic risk, penetrance, and testing implications can differ by gene, variant, family, and individual.

Last reviewed: 09-30-2026

Medical information should be reviewed periodically as genetic research and clinical trials change.

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