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spinocerebellar ataxia type 37 (SCA37) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 37

MONDO:0014410

Also known as:SCA37spinocerebellar ataxia with altered vertical eye movementsspinocerebellar ataxia 37

Find Clinical TrialsTrials

Overview

Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.

GeneticsAutosomal dominant · DAB1 (chr 1)

Clinical Trials1 registered · 1 recruiting

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 always present findings: Ataxia; and very common findings: Dysarthria. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Difficulty swallowing (dysphagia), Dysarthria, Ataxia
Muscles

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DAB1 encodes DAB adaptor protein 1 (588 aa). Signaling adapter of the reelin-mediated signaling pathway, which regulates the migration and differentiation of postmitotic neurons during brain development. Highest expression in Brain Cerebellar Hemisphere (23.7 TPM) and Brain Cerebellum (19.4 TPM).

Spinocerebellar ataxia type 37 is associated with mutations in the DAB1 gene on chromosome 1.

DAB1 is classified as a druggable target (Kinase category) with score 0.0.

GeneReviews

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.

GeneReviews

Diagnostic Criteria

The phenotypic manifestations of spinocerebellar ataxia type 37 (SCA37) are not specific and no formal diagnostic criteria exist; thus, the diagnosis of SCA37 rests on molecular genetic testing. However, if autosomal dominant inheritance is apparent, or if pure cerebellar ataxia with adult onset, initial dysarthria, and dysmetric vertical saccades are seen in a simplex case, SCA37 should be suspected.

Suggestive Findings

SCA37 should be suspected in individuals with the following clinical and imaging findings.

Clinical findings

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for spinocerebellar ataxia type 37. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with spinocerebellar ataxia type 37 (SCA37), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The following are appropriate:

SARA score annually. Note: SARA may not detect disease progression for the first five to seven years.
Electrooculographic tests may be performed every two years (cooperation is required).
Brain MRI volumetry every two years

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

37 publications have been identified in PubMed for spinocerebellar ataxia type 37. Research spans Clinical Trial Publication (24%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).

Research Type	Count	% of Total
Clinical study results	9	24%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615945

Orphanet

European rare disease database

Orphanet:363710

GARD

Genetic and Rare Diseases Info Center

GARD:12368

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for DAB1, 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?

← Back to All Diseases

Kisho

spinocerebellar ataxia type 37

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Surveillance

Therapies Under Investigation

Clinical Trials

Recent Publications

spinocerebellar ataxia type 37

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Surveillance

Therapies Under Investigation

Clinical Trials

Recent Publications