ALS Gene Library

FUS

Fused in Sarcoma

Pathogenic variants in FUS are an established cause of genetic ALS.

FUS-associated ALS can occur at younger ages than some other major genetic forms of ALS.

Some FUS variants are associated with particularly aggressive disease.

Sources: Amyotrophic Lateral Sclerosis Overview · Evidence-Based Consensus Guidelines for ALS Genetic Testing and Counseling · Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

Associated conditions

  • ALS
  • ALS with cognitive involvement in some individuals
  • rare overlap phenotypes

Sources: Amyotrophic Lateral Sclerosis Overview

ALS / FTD relationship

FUS is primarily associated with ALS. Cognitive or FTD overlap is less characteristic than in C9orf72-associated disease and should be assessed in the individual clinical context.

Sources: Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia · Amyotrophic Lateral Sclerosis Overview

Typical inheritance pattern

Typically autosomal dominant.

Sources: Amyotrophic Lateral Sclerosis Overview

Penetrance

Penetrance and age of onset vary by variant.

One penetrance estimate should not be generalized to all FUS variants.

Sources: Amyotrophic Lateral Sclerosis Overview

Clinical presentation

FUS-associated ALS may have earlier onset than SOD1- or C9orf72-associated ALS.

Clinical presentation varies by variant.

Sources: Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia · Amyotrophic Lateral Sclerosis Overview

Genetic testing considerations

FUS sequencing is included in the minimum recommended ALS genetic testing panel.

Results should be interpreted by a qualified clinical team because variant classification and family context matter.

Sources: Evidence-Based Consensus Guidelines for ALS Genetic Testing and Counseling

Biomarkers

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

Sources: Amyotrophic Lateral Sclerosis Overview

Available treatments

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

Sources: Amyotrophic Lateral Sclerosis Overview

Clinical trials

Search FUS 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 FUS studies on ClinicalTrials.gov

Sources: ClinicalTrials.gov: Amyotrophic Lateral Sclerosis studies

Current research

Current research includes FUS biology, variant-specific mechanisms, and possible gene-targeted approaches.

Sources: Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

Key research institutions / studies

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

Open the FUS 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.

Back to ALS Gene Library