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

autosomal recessive spinocerebellar ataxia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Gaze-evoked nystagmus, Dysmetria, Gait ataxia, and Delayed ability to walk and others; and very common findings: Intellectual disability and Delayed speech and language development. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Gait ataxia, Ataxia, Unsteady gait
Eyes	3	Gaze-evoked nystagmus, Saccadic smooth pursuit interruptions, Nystagmus
Muscles	3	Low muscle tone (hypotonia), Generalized hypotonia, Cerebellar vermis atrophy
Growth and development	1	Short stature
Arms and legs	1	Limb ataxia

Age of onset: at birth.

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.

No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 2.

91 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 2. Research spans Basic Science / Preclinical (36%), Case Report / Case Series (32%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	33	36%
Patient case studies	29	32%
Disease patterns and progression	9	10%
Research summaries	8	9%
Clinical study results	7	8%
Testing and diagnosis research	4	4%
New treatment approaches	1	1%

Recent Publications

Brown BN (2026). [PMID: 42160398](https://pubmed.ncbi.nlm.nih.gov/42160398/). *PLoS Genet*. [Basic Science / Preclinical]
Fortin J (2026). [PMID: 41669957](https://pubmed.ncbi.nlm.nih.gov/41669957/). *Mov Disord*. [Epidemiology / Natural History]
Zheng KM (2026). [PMID: 41851873](https://pubmed.ncbi.nlm.nih.gov/41851873/). *BMC Neurol*. [Case Report / Case Series]
Yunoki T (2026). [PMID: 40467513](https://pubmed.ncbi.nlm.nih.gov/40467513/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Misceo D (2026). [PMID: 42074495](https://pubmed.ncbi.nlm.nih.gov/42074495/). *Genes (Basel)*. [Case Report / Case Series]
Martineau L (2026). [PMID: 41529449](https://pubmed.ncbi.nlm.nih.gov/41529449/). *Stem cell research*. [Case Report / Case Series]
Yeow D (2026). [PMID: 41353788](https://pubmed.ncbi.nlm.nih.gov/41353788/). *Annals of clinical and translational neurology*. [Case Report / Case Series]
Adarsha N (2026). [PMID: 41673450](https://pubmed.ncbi.nlm.nih.gov/41673450/). *Journal of human genetics*. [Basic Science / Preclinical]
Chrysanthou A (2026). [PMID: 42129323](https://pubmed.ncbi.nlm.nih.gov/42129323/). *Sci Rep*. [Basic Science / Preclinical]
Erdmann H (2026). [PMID: 40898875](https://pubmed.ncbi.nlm.nih.gov/40898875/). *Brain : a journal of neurology*. [Review / Meta-Analysis]

Kisho

autosomal recessive spinocerebellar ataxia 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

autosomal recessive spinocerebellar ataxia 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team