autosomal recessive Parkinson disease 14
Findings
No curated finding names autosomal recessive Parkinson disease 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Definition from the Mondo Disease Ontology (MONDO:0013060), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Rapidly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
53 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
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Mental deteriorationHPOHP:0001268
- 2 of 2 reported patients
- ParkinsonismHPOHP:0001300
- 3 of 3 reported patients
- TremorHPOHP:0001337
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 41
- Eyelid apraxiaHPOHP:0000658
- 1 of 3 reported patients
- Frequent (30% to 79% of cases)
- Focal dystoniaHPOHP:0004373
- Frequent (30% to 79% of cases)
- Frontotemporal cerebral atrophyHPOHP:0006892
- Frequent (30% to 79% of cases)
- Frontotemporal dementiaHPOHP:0002145
- Frequent (30% to 79% of cases)
- Generalized cerebral atrophy/hypoplasiaHPOHP:0007058
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
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.
- PLA2G6HGNC:9039
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive Parkinson disease 14
- Also called
- autosomal recessive Parkinson disease type 14dystonia-parkinsonism, Paisan-Ruiz typehereditary late onset Parkinson disease caused by mutation in PLA2G6PARK14PLA2G6 hereditary late onset Parkinson diseasePLA2G6-related dystonia-parkinsonism