X-linked parkinsonism-spasticity syndrome
Findings
No curated finding names X-linked parkinsonism-spasticity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
Definition from the Mondo Disease Ontology (MONDO:0010482), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Slowly progressive · Intermediate young adult onset
HPO, annotations 2026-09-02
Features
17 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.
- Cogwheel rigidityHPOHP:0002396
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- ParkinsonismHPOHP:0001300
- 5 of 5 reported patients
- Resting tremorHPOHP:0002322
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
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.
- ATP6AP2HGNC:18305
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Genomics England PanelApp · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
- Limited · Ambry Genetics · X-linked · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
2 names
Resolves to: X-linked parkinsonism-spasticity syndrome
- Also called
- Parkinsonism with spasticity, X-linked, X-linked recessiveXPDS