Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spinocerebellar ataxia type 11 (SCA11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 11

MONDO:0011464

Also known as:SCA11spinocerebellar ataxia 11

Find Clinical TrialsTrials

Overview

Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.

GeneticsAutosomal dominant · TTBK2 (chr 15)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (3 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.

Features include always present findings: Truncal ataxia, Shrinkage of the cerebellum (cerebellar atrophy), Dysarthria, and Gait ataxia and others; and very common findings: Limb ataxia. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Truncal ataxia, Dysarthria, Gait ataxia

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.

TTBK2 function has not been fully characterized.

Spinocerebellar ataxia type 11 is associated with mutations in the TTBK2 gene on chromosome 15.

GeneReviews

Clinical Guidance

No genotype-phenotype correlations have been identified.

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 spinocerebellar ataxia type 11. 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.

3 publications have been identified in PubMed for spinocerebellar ataxia type 11. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

Felício D (2025). [PMID: 41422144](https://pubmed.ncbi.nlm.nih.gov/41422144/). *Sci Rep*. [Basic Science / Preclinical]
Lu YQ (2024). [PMID: 37848700](https://pubmed.ncbi.nlm.nih.gov/37848700/). *Cerebellum*. [Case Report / Case Series]
Luo R (2024). [PMID: 39380965](https://pubmed.ncbi.nlm.nih.gov/39380965/). *Transl Neurosci*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604432

Orphanet

European rare disease database

Orphanet:98767

GARD

Genetic and Rare Diseases Info Center

GARD:10475

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 TTBK2, 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

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

Feature	Number of Persons w/Feature	Comment
Cerebellar ataxia	28/28	Variable truncal /or gait ataxia
Limb ataxia	21/28	—
Dysarthria	22/28	—
Jerky pursuit	18/28	—
Nystagmus	20/28	—
Ophthalmoplegia	2/28	—
Diplopia	4/28	—
Hyperreflexia	18/28	Most prominent in the British family; Lower upper limbs Extrapyramidal
features	1/28	Laterocollis Onset. In the six families described with spinocerebellar ataxia type 11 (SCA11), age of onset ranged from age nine years in the family of Danish origin to age 40-50 years in the families from France, Germany, and China.

Source: GeneReviews — "Spinocerebellar Ataxia Type 11"

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

spinocerebellar ataxia type 11

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

spinocerebellar ataxia type 11

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials