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neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (NADGP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

MONDO:0014940

Also known as:NADGPneurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP

Overview

GeneticsAutosomal recessive · SQSTM1 (chr 5)

ResearchLimited published research (5 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: Dysarthria, Ataxia, Difficulty with thinking and memory (cognitive impairment), and Hypergonadotropic hypogonadism; and very common findings: Mental deterioration and Vertical supranuclear gaze palsy. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Dystonia, Difficulty walking (gait disturbance), Dysarthria

Genetic Landscape

SQSTM1 function has not been fully characterized.

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset is associated with mutations in the SQSTM1 gene on chromosome 5.

Diagnosis

Genetic testing for SQSTM1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 5 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 with ataxia, dystonia, and gaze palsy, childhood-onset.

5 publications have been identified in PubMed for neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Ann Neurol*. [Review / Meta-Analysis]
de Almeida Marcelino AL (2025). [PMID: 40728085](https://pubmed.ncbi.nlm.nih.gov/40728085/). *Mov Disord Clin Pract*. [Case Report / Case Series]
Calakos N (2025). [PMID: 39467044](https://pubmed.ncbi.nlm.nih.gov/39467044/). *Mov Disord*. [Review / Meta-Analysis]
Nandana J (2025). [PMID: 40493129](https://pubmed.ncbi.nlm.nih.gov/40493129/). *Cerebellum*. [Case Report / Case Series]
Masuko S (2024). [PMID: 39587727](https://pubmed.ncbi.nlm.nih.gov/39587727/). *Mol Genet Genomic Med*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 9:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617145

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 with ataxia, dystonia, and gaze palsy, childhood-onset

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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