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spinocerebellar ataxia type 36 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia type 36

MONDO:0013594

Also known as:AsidanSCA36spinocerebellar ataxia 36

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Overview

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.

GeneticsAutosomal dominant · NOP56 (chr 20)

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.

Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy) and Nystagmus; and very common findings: Hearing loss (hearing impairment), Ataxia, Truncal ataxia, and Dysarthria and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	17	Gait ataxia, Ataxia, Fasciculations

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.

NOP56 encodes NOP56 ribonucleoprotein (594 aa). Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs. Highest expression in Cells EBV-transformed lymphocytes (117.5 TPM) and Cells Cultured fibroblasts (91.0 TPM).

Spinocerebellar ataxia type 36 is associated with mutations in the NOP56 gene on chromosome 20.

NOP56 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NOP56 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia type 36 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 5 very common features, 11 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

6 publications have been identified in PubMed for spinocerebellar ataxia type 36. Kisho has analyzed 4 by research type. Research spans Epidemiology / Natural History (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).

Recent Publications

Ahn JH (2026). [PMID: 39994402](https://pubmed.ncbi.nlm.nih.gov/39994402/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Rocca C (2025). [PMID: 40004498](https://pubmed.ncbi.nlm.nih.gov/40004498/). *Genes (Basel)*. [Epidemiology / Natural History]
Hsiao CT (2025). [PMID: 41337098](https://pubmed.ncbi.nlm.nih.gov/41337098/). *PLoS Genet*. [Basic Science / Preclinical]
Chen R (2024). [PMID: 38934198](https://pubmed.ncbi.nlm.nih.gov/38934198/). *Neurodegener Dis*. [Diagnostic / Biomarker]

Data assembled from 7 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:614153

Orphanet

European rare disease database

Orphanet:276198

GARD

Genetic and Rare Diseases Info Center

GARD:12367

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 NOP56, 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?

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spinocerebellar ataxia type 36

Overview

Clinical Presentation

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

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