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autosomal dominant striatal neurodegeneration type 1 (ADSD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant striatal neurodegeneration type 1

MONDO:0012205

Also known as:ADSD1PDE8B striatal degeneration, autosomal dominantstriatal Degeneration, autosomal dominant 1

Overview

Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.

GeneticsAutosomal dominant · PDE8B (chr 5)

ResearchLimited published research (2 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: Slowness of movement (bradykinesia), Difficulty walking (gait disturbance), Dysarthria, and Muscle stiffness (rigidity) and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Slowness of movement (bradykinesia), Reduced movement (hypokinesia), Difficulty walking (gait disturbance)

Genetic Landscape

PDE8B function has not been fully characterized.

Autosomal dominant striatal neurodegeneration type 1 is associated with mutations in the PDE8B gene on chromosome 5.

Diagnosis

Genetic testing for PDE8B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present 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 autosomal dominant striatal neurodegeneration type 1.

2 publications have been identified in PubMed for autosomal dominant striatal neurodegeneration type 1. Research spans Review / Meta-Analysis (100%).

Recent Publications

Barbagallo F (2025). [PMID: 39820109](https://pubmed.ncbi.nlm.nih.gov/39820109/). *Clin Psychopharmacol Neurosci*. [Review / Meta-Analysis]
Crescioli C (2024). [PMID: 39451238](https://pubmed.ncbi.nlm.nih.gov/39451238/). *Cells*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609161

Questions for Your Care Team

→Should I pursue genetic testing for PDE8B, 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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autosomal dominant striatal neurodegeneration type 1

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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