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amyotrophic lateral sclerosis type 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 22

MONDO:0014531

Also known as:ALS 22TUBA4A amyotrophic lateral sclerosisamyotrophic lateral sclerosis 22

Overview

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.

GeneticsAutosomal dominant · TUBA4A (chr 2)

Clinical Presentation

Features include always present findings: Amyotrophic lateral sclerosis; and sometimes findings: Frontotemporal dementia.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Frontotemporal dementia

Explore clinical features

Genetic Landscape

TUBA4A function has not been fully characterized.

Amyotrophic lateral sclerosis type 22 has been associated with mutations in the TUBA4A gene on chromosome 2.

Diagnosis

Genetic testing for TUBA4A is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 22 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 amyotrophic lateral sclerosis type 22.

216 publications have been identified in PubMed for amyotrophic lateral sclerosis type 22. Kisho has analyzed 153 by research type. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	50	33%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 11:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616208

GARD

Genetic and Rare Diseases Info Center

GARD:16068

Questions for Your Care Team

→Should I pursue genetic testing for TUBA4A, 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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amyotrophic lateral sclerosis type 22

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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