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striatal degeneration, autosomal dominant 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

striatal degeneration, autosomal dominant 2

MONDO:0014835

Also known as:striatal degeneration, autosomal dominantADSD2PDE10A striatal degeneration, autosomal dominant

Overview

Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.

GeneticsAutosomal dominant · PDE10A (chr 6)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Parkinsonism, Chorea, Abnormal corpus striatum morphology, and Mental deterioration and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Parkinsonism, Chorea, Mental deterioration

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Genetic Landscape

PDE10A function has not been fully characterized.

Striatal degeneration, autosomal dominant 2 is associated with mutations in the PDE10A gene on chromosome 6.

Diagnosis

Genetic testing for PDE10A is available. Testing is considered confirmatory for diagnosis.

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 striatal degeneration, autosomal dominant 2.

2 publications have been identified in PubMed for striatal degeneration, autosomal dominant 2. Research spans Review / Meta-Analysis (100%).

Recent Publications

Barbagallo F (2025). [PMID: 39820109](https://pubmed.ncbi.nlm.nih.gov/39820109/). *Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology*. [Review / Meta-Analysis]
Hobbs NZ (2024). [PMID: 38788082](https://pubmed.ncbi.nlm.nih.gov/38788082/). *Journal of Huntington's disease*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616922

Questions for Your Care Team

→Should I pursue genetic testing for PDE10A, 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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striatal degeneration, autosomal dominant 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team