autosomal dominant striatal neurodegeneration type 1
MONDO:0012205Mondo
Findings
No curated finding names autosomal dominant striatal neurodegeneration type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Slowly progressive
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BradykinesiaHPOHP:0002067
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Degeneration of the striatumHPOHP:0040140
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysdiadochokinesisHPOHP:0002075
- 7 of 7 reported patients
- Gait disturbanceHPOHP:0001288
- 7 of 7 reported patients
- RigidityHPOHP:0002063
- 7 of 7 reported patients
- Slurred speechHPOHP:0001350
- 1 of 1 reported patient
- Symmetric T2-signal increase with T1-signal decrease in the putamenHPOHP:0007039
- 1 of 1 reported patient
- TremorHPOHP:0001337
- 0 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDE8BHGNC:8794
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: autosomal dominant striatal neurodegeneration type 1
- Also called
- ADSD1PDE8B striatal degeneration, autosomal dominantstriatal Degeneration, autosomal dominant 1striatal degeneration, autosomal dominant caused by mutation in PDE8B