ORPHA:199351
PLA2G6-related neurodegeneration, adult-onset
Also known as: Dystonia-parkinsonism, Paisan-Ruiz type · PARK14 · PLA2G6-related dystonia-parkinsonism · PLA2G6-associated neurodegeneration, adult-onset · Adult-onset dystonia-parkinsonism · Adult PLAN · Adult phospholipase A2-associated neurodegeneration
Publications
2,798
Trials
1
Interventional, condition-specific
Researchers
1,310
Distinct authors in sample
Gene link
PLA2G6
Strong
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013060
- MeSH:C567844
- OMIM:612953
- UMLS:C2751842
Additional Mondo synonyms (4)
PLA2G6 hereditary late onset Parkinson disease · autosomal recessive Parkinson disease type 14 · dystonia-parkinsonism, Paisan-Ruiz type · hereditary late onset Parkinson disease caused by mutation in PLA2G6
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — PLA2G6
- LiteraturePresent
2,798 matched papers (1,982 in last 10 years) Source
- Phenotype characterisedPresent
68 HPO annotations (e.g. Bradykinesia; Dystonia; Frontotemporal dementia) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (PLA2G6).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
68
Associated phenotypes · MONDO:0013060
- Bradykinesia
- Dystonia
- Frontotemporal dementia
- Global brain atrophy
- Rigidity
Showing 5 of 68 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Pla2g6tm1.1Hlw/Pla2g6tm1.1Hlw [background:] involves: 129 * C57BL/6J·MGI:6849976·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,798
2,798 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,798 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,982 in the last 10 years · low confidence
Phrase hits: 448 · MeSH hits: 0
Who's working on it?
1,310
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Kurian MA8 papers · 2025
Neurosciences Unit Institute of Child Health, London United Kingdom.
Papers in Europe PMC - 02Di Fonzo A7 papers · 2026
Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Papers in Europe PMC - 03Hattori N7 papers · 2025
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 04Li Y6 papers · 2026
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 05Lu CS6 papers · 2022
Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan, Taiwan.
Papers in Europe PMC - 06Monfrini E6 papers · 2025
Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Papers in Europe PMC - 07Funayama M5 papers · 2025
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 08Hayflick SJ5 papers · 2025
Department of Molecular & Medical Genetics, OR Health & Science University, Portland 97239, USA; Department of Paediatrics, OR Health & Science University, Portland 97239, USA; Department of Neurology, OR Health & Science University, Portland 97239, USA.
Papers in Europe PMC - 09
- 10
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (5)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2024-518215-18-00·Authorised, ongoing·An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged ≥ 5 years.
skipped — LLM skipped (--skip-llm)
- ctis·2024-516153-52-00·Cancelled·A Two-cohort, Open-label, Single-arm, Multicenter Study to Evaluate Efficacy, Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of Emapalumab in Children and Adults with Macrophage Activation Syndrome (MAS) in Still's Disease (Including Systemic Juvenile Idiopathic Arthitis and Adult Onset Still's Disease) or with MAS in Systemic Lupus Erythematosus
skipped — LLM skipped (--skip-llm)
- ctis·2023-508000-37-01·Authorised, ongoing·GLYCOGEN RESPONSE TO ENZYME REPLACEMENT THERAPY IN POMPE DISEASE
skipped — LLM skipped (--skip-llm)
- ctis·2022-502505-15-00·Cancelled·A Phase 2 Safety, Tolerability, and Proof-of-Concept Study of VGL101 in Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia (ALSP)
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for PLA2G6-related neurodegeneration, adult-onset — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("PLA2G6-related neurodegeneration, adult-onset" OR "Dystonia-parkinsonism, Paisan-Ruiz type" OR "PARK14" OR "PLA2G6-related dystonia-parkinsonism" OR "PLA2G6-associated neurodegeneration, adult-onset" OR "Adult-onset dystonia-parkinsonism" OR "Adult PLAN" OR "Adult phospholipase A2-associated neurodegeneration" OR "PLA2G6 hereditary late onset Parkinson disease" OR "autosomal recessive Parkinson disease type 14") OR (MESH:"Dystonia-Parkinsonism, Adult-Onset") OR ("PLA2G6" OR "PLA2G6 syndrome" OR "PLA2G6-related")MeSH descriptor terms unioned into the query: Dystonia-Parkinsonism, Adult-Onset
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PLA2G6-related neurodegeneration, adult-onset" OR "Dystonia-parkinsonism, Paisan-Ruiz type" OR "PARK14" OR "PLA2G6-related dystonia-parkinsonism" OR "PLA2G6-associated neurodegeneration, adult-onset" OR "Adult-onset dystonia-parkinsonism" OR "Adult PLAN" OR "Adult phospholipase A2-associated neurodegeneration" OR "PLA2G6 hereditary late onset Parkinson disease" OR "autosomal recessive Parkinson disease type 14" OR "Dystonia-Parkinsonism, Adult-Onset"
Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: hereditary late onset Parkinson disease caused by mutation in PLA2G6
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2798) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:14:51.791Z