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
448
85.4th percentile
Trials
1
Interventional, condition-specific
Researchers
1,310
Distinct authors in sample
Gene link
PLA2G6
Strong
Readiness
3/6
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — PLA2G6
- LiteraturePresent
448 matched papers (312 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
448
448 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
448 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
312 in the last 10 years · medium confidence · 85.4th percentile (publications denominator)
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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th 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.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05522374·RECRUITING·TIRCON International NBIA Registry
Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA) · Pantothenate Kinase-associated Neurodegeneration (PKAN) · Beta-Propeller Protein-Associated Neurodegeneration (BPAN) · Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)·Matched via recall expansion
- NCT06912841·ENROLLING BY INVITATION·Deep Brain Stimulation (DBS) MatchMaker
Conditions: TOR1A · PANK2 · HPRT1 · EIF2AK2·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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"
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" OR "PLA2G6"
Recall-expansion terms: PLA2G6
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 · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (448) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T09:14:51.791Z