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ORPHA:411602

Hereditary late-onset Parkinson disease

medium confidenceDisorder

Also known as: Autosomal dominant late-onset Parkinson disease · LOPD

Publications

121

57.5th percentile

Trials

11

Interventional, condition-specific

Researchers

845

Distinct authors in sample

Gene link

GBA1, MAPT

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (10)

PARK · PD · Parkinson disease, age of onset, modifier, Multifactorial · Parkinson disease, late-onset · Parkinson disease, late-onset, susceptibility to, Multifactorial · Parkinson disease, susceptibility to, Multifactorial · autosomal dominant late-onset Parkinson disease · hereditary late onset Parkinson disease · hereditary late-onset Parkinson disease · late-onset Parkinson disease

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.

  1. Gene identifiedPresent

    Strong — GBA1, MAPT

  2. LiteraturePresent

    121 matched papers (61 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov (5 recruiting in sample)

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 (GBA1, MAPT).

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?

121

121 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.

121 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).

61 in the last 10 years · medium confidence · 57.5th percentile (publications denominator)

Phrase hits: 121 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

845

Distinct author names in 121 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.

  1. 01
    West AB7 papers · 2017

    From the Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology and abwest@uab.edu.

    Papers in Europe PMC
  2. 02
    Ross OA4 papers · 2026

    Department of Neuroscience, Mayo Clinic, Jacksonville, FL.

    Papers in Europe PMC
  3. 03
    Wszolek ZK4 papers · 2011
    Papers in Europe PMC
  4. 04
    Alcalay RN3 papers · 2020

    From the Center for Neurodegeneration and Experimental Therapeutics (K.B.F., M.S.M., A.B.W.), Department of Neurology, University of Alabama at Birmingham; and Department of Neurology (R.N.A.), Columbia University, New York, NY.

    Papers in Europe PMC
  5. 05
    Fahn S3 papers · 2020

    Department of Human Genetics (U.R., L.K., G.A.R, Z.G.-O.), McGill University, Montréal; Montreal Neurological Institute (U.R., J.A.R., L.K., S.B.L., D.S., G.A.R., E.A.F.Z.G.-O.), McGill University; Department of Neurology and Neurosurgery (J.A.R., S.B.L., D.S., G.A.R., E.A.F., Z.G.-O.), McGill University, Montréal, Québec, Canada; The Danek Gertner Institute of Human Genetics, Sheba Medical Center (L.G.); The Joseph Sagol Neuroscience Center (L.G., S.H.-B.), Sheba Medical Center, Tel Hashomer, Ramat Gan; Sackler School of Medicine (L.G., G.Y., S.H.-B.), Tel-Aviv University; Department of Neurology (G.Y., S.H.-B.), Sheba Medical Center; Movement Disorders Institute (G.Y., S.H.-B.), Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Centre d'Études Avancées en Médecine du Sommeil (A.D., J.Y.M.), Hôpital du Sacré-Cœur de Montréal; Department of Neurosciences (A.D.), Université de Montréal; Department of Psychiatry (J.Y.M.), Université de Montréal, Québec, Canada; Department of Neurology (S.F., C.H.W., O.L., C.M.K., S.N., R.N.A.), College of Physicians and Surgeons, Columbia University Medical Center, New York; Department of Neurology (Y.D.), National Reference Center for Narcolepsy, Sleep Unit, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm, France; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada; and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University Medical Center, New York.

    Papers in Europe PMC
  6. 06
    Fon EA3 papers · 2020

    The Ottawa Hospital, University of Ottawa Brain and Mind Research Institute (Grimes, Fitzpatrick, Schlossmacher, Mestre), Ottawa, Ont.; Parkinson Canada (Gordon), Toronto, Ont.; University of Alberta Hospital (Miyasaki), Edmonton, Alta.; Montreal Neurological Institute (Fon), McGill University, Montréal, Que.; University of Alberta (Suchowersky), Edmonton, Alta.; Royal University Hospital (Rajput), University of Saskatchewan, Saskatoon, Sask.; Montreal General Hospital (Lafontaine, Postuma), McGill University, Montréal, Que.; Pacific Parkinson's Research Centre, Djavad Mowafaghian Centre for Brain Health (Appel-Cresswell), University of British Columbia, Vancouver, BC; Toronto Western Hospital (Kalia, Zurowski, Fox), University of Toronto, Toronto, Ont.; Dalhousie University (Schoffer), Halifax, NS; University of Manitoba Rady Faculty of Health Sciences (Udow), Winnipeg, Man.; Knowledge Synthesis Group (Barbeau, Hutton), Ottawa Hospital Research Institute, Ottawa, Ont.

    Papers in Europe PMC
  7. 07
    Guo JF3 papers · 2013

    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  8. 08
    Liu Z3 papers · 2017

    From the Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology and Center for Biophysical Sciences and Engineering, Department of Optometry, The University of Alabama at Birmingham, Birmingham, Alabama 35294 and.

    Papers in Europe PMC
  9. 09
    Moehle MS3 papers · 2016

    From the Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology and.

    Papers in Europe PMC
  10. 10
    Rajput A3 papers · 2019

    The Ottawa Hospital, University of Ottawa Brain and Mind Research Institute (Grimes, Fitzpatrick, Schlossmacher, Mestre), Ottawa, Ont.; Parkinson Canada (Gordon), Toronto, Ont.; University of Alberta Hospital (Miyasaki), Edmonton, Alta.; Montreal Neurological Institute (Fon), McGill University, Montréal, Que.; University of Alberta (Suchowersky), Edmonton, Alta.; Royal University Hospital (Rajput), University of Saskatchewan, Saskatoon, Sask.; Montreal General Hospital (Lafontaine, Postuma), McGill University, Montréal, Que.; Pacific Parkinson's Research Centre, Djavad Mowafaghian Centre for Brain Health (Appel-Cresswell), University of British Columbia, Vancouver, BC; Toronto Western Hospital (Kalia, Zurowski, Fox), University of Toronto, Toronto, Ont.; Dalhousie University (Schoffer), Halifax, NS; University of Manitoba Rady Faculty of Health Sciences (Udow), Winnipeg, Man.; Knowledge Synthesis Group (Barbeau, Hutton), Ottawa Hospital Research Institute, Ottawa, Ont.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 5 currently recruiting in our sample. 2,083 trials are registered for Parkinson disease, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

11 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.1th percentile).

medium confidence · 92.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

11 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: Parkinson disease

2,083

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

4 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Hereditary late-onset Parkinson disease" OR "Autosomal dominant late-onset Parkinson disease" OR "Parkinson disease, age of onset, modifier, Multifactorial" OR "Parkinson disease, age of the onset, modifier, Multifactorial" OR "Parkinson disease, late-onset" OR "Parkinson disease, late-onset, susceptibility to, Multifactorial" OR "Parkinson disease, susceptibility to, Multifactorial" OR "hereditary late onset Parkinson disease" OR "late-onset Parkinson disease"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hereditary late-onset Parkinson disease" OR "Autosomal dominant late-onset Parkinson disease" OR "Parkinson disease, age of onset, modifier, Multifactorial" OR "Parkinson disease, age of the onset, modifier, Multifactorial" OR "Parkinson disease, late-onset" OR "Parkinson disease, late-onset, susceptibility to, Multifactorial" OR "Parkinson disease, susceptibility to, Multifactorial" OR "hereditary late onset Parkinson disease" OR "late-onset Parkinson disease" OR "GBA1" OR "MAPT"

Recall-expansion terms: GBA1, MAPT

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 11 interventional · 4 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Parkinson disease"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LOPD; PARK; PD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T15:41:19.129Z