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autosomal dominant cerebellar ataxia type I (ADCA1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant cerebellar ataxia type I

MONDO:0019792

Also known as:ADCA1ADCAIautosomal dominant cerebellar ataxia type 1

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Overview

Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.

OnsetADULT

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (4 articles)

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.

Age of onset: adulthood.

GeneReviews

Clinical Guidance

The phenotypic spectrum of spinocerebellar ataxia type 13 (SCA13) originally clustered into two presentations: congenital-onset ataxia with little progression, typically accompanied by mild-to-moderate intellectual disability and occasionally seizures and adult-onset progressive ataxia . A rapidly progressive phenotype associated with adult onset (age 30 years) with fairly rapid (10-15 years) progression was described by .

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

Formal diagnostic criteria for spinocerebellar ataxia type 13 (SCA13) have not been established.

Suggestive Findings

SCA13 should be considered in individuals with the following age-related phenotypes.

Congenital-onset cerebellar hypoplasia with non-progressive cerebellar ataxia

Congenital-onset non-progressive severe cerebellar hypoplasia on brain MRI

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 I. 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 congenital-onset non-progressive spinocerebellar ataxia type 13 or adult-onset progressive SCA13, the multidisciplinary evaluations summarized in and , respectively (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with Congenital-Onset Non-Progressive SCA13

Prognosis

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

GeneReviews

Surveillance Guidelines

Surveillance by a multidisciplinary team is recommended for individuals with congenital-onset non-progressive SCA13 and individuals with adult-onset progressive SCA13 . Table 6. Recommended Surveillance for Individuals Congenital-Onset Non-Progressive SCA13

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.

4 publications have been identified in PubMed for autosomal dominant cerebellar ataxia type I. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).

Recent Publications

In Lee J (2024). [PMID: 38860480](https://pubmed.ncbi.nlm.nih.gov/38860480/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Li R (2024). [PMID: 39011359](https://pubmed.ncbi.nlm.nih.gov/39011359/). *Frontiers in neurology*. [Case Report / Case Series]
Raslan IR (2024). [PMID: 38681507](https://pubmed.ncbi.nlm.nih.gov/38681507/). *Neurology. Genetics*. [Epidemiology / Natural History]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum (London, England)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:94145

GARD

Genetic and Rare Diseases Info Center

GARD:19252

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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System/Concern	Evaluation	Comment
Constitutional	Measure height, weight, head circumference.	To assess for FTT
Feeding	If frequent choking or severe dysphagia: assess nutritional status aspiration risk; evaluate for GERD.	Consider involving gastroenterologist / nutrition / feeding team.
Neurologic	Exam by neurologist for: history of known or suspected seizures, tremor, gait /or appendicular ataxia	Assessment by physical medicine, OT/PT
Musculoskeletal	Assess spine extremities, w/attn to hip joint abnormalities range of motion.	Motor delay /
Intellectual disability	Developmental assessment	To incl motor, speech/language eval, general cognitive, vocational skills Psychiatric/
Behavioral	Neuropsychiatric eval	Persons age 12 mos: screen for behavioral problems incl sleep disturbances, ADHD, anxiety, /or traits suggestive of ASD.
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of SCA13 to facilitate medical personal decision making Family support/
resources	Social work	Assess:; Use of support/advocacy organizations (e.g., Parent to Parent); ADHD = attention-deficit/hyperactivity disorder; FTT = failure to thrive; GERD = gastroesophageal reflux disease; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy 1.
Recommended Evaluations Following Initial Diagnosis in Individuals with Adult-Onset Progressive SCA13 System/Concern	Evaluation	Comment
Neurologic	Neurologic assessment for cerebellar motor dysfunction (gait postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, smooth pursuit)	Use standardized scale (SARA, ICARS, or BARS) to establish baseline for ataxia.1 Physical medicine, OT/PT assessment
Speech	Speech/language eval for those w/dysarthria	If dysarthria is atypical or severe enough to cause communication problems
Feeding	If frequent choking or severe dysphagia: assess nutritional status aspiration risk.	Consider placement of feeding tube for severe cases to risk of aspiration. Psychiatric/
Behavioral	Neuropsychiatric eval for those w/problems in learning /or social adaptation	No evidence that pharmacologic therapy has been required or effective in patients w/known pathogenic variants Genetic
counseling	By genetics professionals2	To inform patients families re nature, MOI, implications of SCA13 to facilitate medical personal decision making Family support/
resources	Social work	Assess:; Use of support/advocacy organizations (e.g., Parent to Parent); BARS = Brief Ataxia Rating Scale; ICARS = International Co-operative Ataxia Rating Scale; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia 1. , 2.
Treatment of Manifestations in Individuals with Congenital-Onset Non-Progressive SCA13 Manifestation/Concern	Treatment	Considerations/Other
Ataxia	Assessment by physical medicine, OT/PT	Consider adaptive devices to maintain/improve independence in mobility, feeding.
Seizures	ASM under care of experienced neurologist	See footnote 1.
Tremor	None	Tremor-controlling drugs are not effective for cerebellar tremors.
Dysarthria	Speech/language therapy	Consider alternative communication methods as needed (e.g., writing pads digital devices). Dysphagia

Kisho

autosomal dominant cerebellar ataxia type I

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Congenital-Onset Cerebellar Hypoplasia with Non-Progressive Cerebellar Ataxia

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

autosomal dominant cerebellar ataxia type I

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Congenital-Onset Cerebellar Hypoplasia with Non-Progressive Cerebellar Ataxia

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials