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neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline

MONDO:0957985

Overview

GeneticsAutosomal dominant · CAPRIN1 (chr 11)

ResearchLimited published research (1 article)

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: Peripheral axonal neuropathy, Skeletal muscle atrophy, Shrinkage of the cerebellum (cerebellar atrophy), and Dysarthria and others; and common findings: Brain shrinkage (cerebral atrophy), Difficulty swallowing (dysphagia), Sideways curvature of the spine (scoliosis), and Dysdiadochokinesis and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8

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.

CAPRIN1 encodes cell cycle associated protein 1 (709 aa). mRNA-binding protein that acts as a regulator of mRNAs transport, translation and/or stability, and which is involved in neurogenesis, synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. Highest expression in Cells Cultured fibroblasts (110.9 TPM) and Cells EBV-transformed lymphocytes (109.5 TPM).

Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline has been associated with mutations in the CAPRIN1 gene on chromosome 11.

CAPRIN1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CAPRIN1 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 7 common features.

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 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline.

1 publication has been identified in PubMed for neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline. Research spans Case Report / Case Series (100%).

Recent Publications

Majjigudda RA (2024). [PMID: 39600756](https://pubmed.ncbi.nlm.nih.gov/39600756/). *Cureus*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 9:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620636

Questions for Your Care Team

→Should I pursue genetic testing for CAPRIN1, 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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neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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