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autosomal dominant cerebellar ataxia type III (ADCA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant cerebellar ataxia type III

MONDO:0019793

Also known as:ADCA3ADCAIIIPure cerebellar syndrome-mild pyramidal signs syndrome

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Overview

Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

To date, 28 individuals from six families have been identified with a pathogenic variant in TTBK2 [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Clinical Features of Spinocerebellar Ataxia Type 11

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 11 (SCA11) should be considered in individuals with the following clinical features:

Progressive cerebellar ataxia
Abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus)
Dysarthria

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 autosomal dominant cerebellar ataxia type III. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Management is supportive; a multidisciplinary approach is recommended. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with spinocerebellar ataxia type 11 (SCA11), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Spinocerebellar Ataxia Type 11

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with SCA11

System/Concern

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.

60 publications have been identified in PubMed for autosomal dominant cerebellar ataxia type III. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (21%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Laboratory research	19	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:94148

GARD

Genetic and Rare Diseases Info Center

GARD:19253

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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GeneReviews

Differential Diagnosis

According to AE Harding's classification, spinocerebellar ataxia type 11 (SCA11) is included in the pure autosomal dominant cerebellar ataxias (ADCA III) , the most common group of inherited ataxias. SCA11 accounts for approximately 2% of ADCA III. Significant overlap is observed between SCA11 and SCA5, SCA6, SCA15, and SCA20, all of which may be distinguished by molecular genetic testing . Table 3. Hereditary Ataxia Disorders of Interest in the Differential Diagnosis of Spinocerebellar Ataxia Type 11

Gene	Disorder	MOI	Key Clinical Features
SCA6	AD	Pure cerebellar ataxia w/slow progression. Some described w/downbeat nystagmus, whereas 50% of British individuals w/SCA11 had an upbeat nystagmus.	—
ITPR1	SCA15 (OMIM 606658)	AD	Slowly progressive pure cerebellar ataxia w/mild tremor mild hyperreflexia
SPTBN2	SCA5 (OMIM 600224)	AD	Slowly progressive pure cerebellar ataxia Unknown1
SCA20	AD	Slowly progressive cerebellar ataxia w/abnormal phonation dysarthria, palatal tremor in 2/3s of individuals. Minor pyramidal signs may also be seen.	—

Source: GeneReviews — "Spinocerebellar Ataxia Type 11"

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	Use SARA to establish baseline. Feeding eval
Peripheral nervous system	Nerve conduction studies	Nerve conduction studies recommended to exclude a coexisting neuropathy that may require further monitoring
Ophthalmologic	Ophthalmologic eval	To evaluate eye movement for diplopia
Other	Consultation w/clinical geneticist /or genetic counselor	OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia Treatment of Manifestations Management is supportive; no disease-modifying treatments are known to date. Table 5.
Treatment of Manifestations in Individuals with SCA11 ManifestationConcern	Treatment	Considerations/Other Ataxia
dysphagia	Speech language therapy eval/treatment	To teach strategies to improve articulation avoid aspiration Modify food consistency to reduce aspiration risk
neuropathy	Ankle-foot orthotics	Ensure good foot care foot health w/regular review by podiatrist.
Diplopia	Ophthalmologic consultation	Prism glasses can be helpful. OT = occupational therapy; PT = physical therapy Surveillance Table 6.
Recommended Surveillance for Individuals with SCA11 System/Concern	Evaluation	Frequency
Ataxia	Neurologic eval	Annually PT OT
dysphagia	Eval w/speech-language pathologist	Follow up dependent on severity requirements Ophthalmoplegia
diplopia	Ophthalmology	Follow up dependent on severity requirements OT = occupational therapy; PT = physical therapy Evaluation of Relatives at Risk See for issues related to testing of at-risk relatives for genetic counseling purposes. Search ClinicalTrials.

Kisho

autosomal dominant cerebellar ataxia type III

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

autosomal dominant cerebellar ataxia type III

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications