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spinocerebellar ataxia type 10 (SCA10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 10

MONDO:0011330

Also known as:SCA10spinocerebellar ataxia 10

Find Clinical TrialsTrials

Overview

Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.

GeneticsAutosomal dominant · ATXN10 (chr 22)

Clinical Trials2 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: Polyneuropathy, Gait ataxia, Dysarthria, and Limb ataxia; and common findings: Slowness of movement (bradykinesia), Shrinkage of the cerebellum (cerebellar atrophy), Limb fasciculations, and Distal sensory impairment and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Scanning speech, Slowness of movement (bradykinesia), Seizure

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.

ATXN10 encodes ataxin 10 (475 aa). May play a role in the regulation of cytokinesis. May play a role in signaling by stimulating protein glycosylation. Highest expression in Cells Cultured fibroblasts (82.2 TPM) and Cells EBV-transformed lymphocytes (74.0 TPM).

Spinocerebellar ataxia type 10 is associated with mutations in the ATXN10 gene on chromosome 22.

ATXN10 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

Suggestive Findings

Spinocerebellar ataxia type 10 (SCA10) should be suspected in individuals with the following findings:

Slowly progressive cerebellar ataxia starting as poor balance and unsteady gait
Scanning dysarthria, dysphagia, and upper-limb ataxia following the gait ataxia
Family history consistent with autosomal dominant inheritance and Native American or East Asian ancestry

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 10. 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 10 (SCA10), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with SCA10

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 5.

Recommended Surveillance for Individuals with SCA10

System/Concern | Evaluation | Frequency

Neurologic

| Clinical evaluation w/neurologist | Every 4-6 mos to identify early signs of potential complications to adjust anticonvulsant treatments

Video esophagrams can identify consistency of food least likely to trigger aspiration. | As needed in individuals w/dysphagia

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.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE3. Research is sponsored by a mix of industry and academic institutions.

12 publications have been identified in PubMed for spinocerebellar ataxia type 10. Research spans Epidemiology / Natural History (58%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Disease patterns and progression	7

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:603516

Orphanet

European rare disease database

Orphanet:98761

GARD

Genetic and Rare Diseases Info Center

GARD:10474

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for ATXN10, 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

GeneReviews

Differential Diagnosis

Significant overlap exists in the clinical presentation of the SCAs (see Hereditary Ataxia Overview). All are characterized by ataxia, and some by other neurologic signs. Clinical presentation may vary even among affected members of the same family. SCA type cannot generally be determined by clinical or neuroimaging studies of single individuals. Although the combination of "pure" cerebellar ataxia (lacking other motor or cranial nerve involvement) and seizures is typical for SCA10 and has seldom been seen in other autosomal dominant cerebellar ataxias, it is possible that in some families, SCA10 could be a pure cerebellar ataxia without seizures. See for notable clinical features of selected hereditary disorders in the differential diagnosis of SCA10. Table 2. Hereditary Ataxia Disorders of Interest in the Differential Diagnosis of Spinocerebellar Ataxia Type 10

Gene	Disorder	MOI	Clinical Features
DRPLA	AD	Seizures; Conspicuous neurologic signs (e.g., extrapyramidal signs) not seen in SCA10 ATXN1	—
SCA1	AD	Pyramidal signs are more robust than in SCA10. ATXN2	—
SCA2	AD	Slow saccadic eye movements (not seen in SCA10) ATXN3	—
SCA3	AD	More extensive extrapyramidal signs involvement of lower motor neurons than in SCA10 ATXN7	—
SCA7	AD	Retinopathy w/macular degeneration (not seen in SCA10)	—
FMR1	FXTAS (See FMR1-Related Disorders.)	XL	Onset of ataxia is later (age 50 yrs) than that assoc w/SCA10 full-penetrance alleles, but may be earlier than that assoc w/SCA10 reduced-penetrance alleles. FXN
Friedreich ataxia	AR	Sensorispinal ataxia	—
ITPR1	SCA15 (OMIM 606658)	AD	Head tremor (not seen in SCA10) KCNC3
SCA13	AD	Seizures may accompany relatively "pure" cerebellar ataxia.; Identified primarily in persons of Filipino French ancestry	—
PPP2R2B	SCA12 (OMIM 604326)	AD	Head tremor (not seen in SCA10) PRKCG
SCA14	AD	Seizures may accompany relatively "pure" cerebellar ataxia.; Identified primarily in persons of European Japanese ancestry (most persons w/SCA10 are of Latin American/ Amerindian ancestry) TBP	—
SCA17	AD	Seizures AD = autosomal dominant; AR = autosomal recessive; DRPLA = dentatorubral-pallidoluysian atrophy; FXTAS = fragile X-associated tremor/ataxia syndrome; MOI = mode of inheritance; SCA = spinocerebellar ataxia; XL = X-linked SCA4.	—

Source: GeneReviews — "Spinocerebellar Ataxia Type 10"

Kisho

spinocerebellar ataxia type 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

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

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1.

spinocerebellar ataxia type 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

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

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1.