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spinocerebellar ataxia 50 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia 50

MONDO:0859334

Overview

GeneticsAutosomal dominant · NPTX1 (chr 17)

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: Ataxia; and very common findings: Nystagmus. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Action tremor, Memory problems (memory impairment), Ataxia
Eyes

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.

NPTX1 encodes neuronal pentraxin 1 (432 aa). May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses Highest expression in Brain Cerebellar Hemisphere (444.5 TPM) and Brain Cerebellum (405.9 TPM).

Spinocerebellar ataxia 50 is associated with mutations in the NPTX1 gene on chromosome 17.

NPTX1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NPTX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia 50 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 1 common feature.

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 spinocerebellar ataxia 50.

69 publications have been identified in PubMed for spinocerebellar ataxia 50. Research spans Epidemiology / Natural History (23%), Review / Meta-Analysis (19%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Disease patterns and progression	16	23%

Data assembled from 5 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:620158

Questions for Your Care Team

→Should I pursue genetic testing for NPTX1, 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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Kisho

spinocerebellar ataxia 50

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia 50

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications