dentatorubral-pallidoluysian atrophy
Findings
No curated finding names dentatorubral-pallidoluysian atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Definition from the Mondo Disease Ontology (MONDO:0007435), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
32 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.
- Atrophy of the dentate nucleusHPOHP:0007047
- Very frequent (80% to 99% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Action tremorHPOHP:0002345
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- 28 of 51 reported patients
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Show the remaining 20
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Impaired proprioceptionHPOHP:0010831
- Frequent (30% to 79% of cases)
- Involuntary movementsHPOHP:0004305
- Frequent (30% to 79% of cases)
- Limb ataxiaHPOHP:0002070
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- 2 of 51 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.
- ATN1HGNC:3033
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: dentatorubral-pallidoluysian atrophy
- Also called
- Dentatorubropallidoluysian atrophyDRPLAhaw River syndromeNaito-Oyanagi disease