RARE DISEASERESEARCH ATLAS

ORPHA:97353

Dementia pugilistica

low confidenceDisorder

Also known as: Boxer's dementia · Chronic traumatic encephalopathy · Punch-drunk syndrome

Publications

5,603

Trials

20

Interventional, condition-specific

Researchers

1,053

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease characterized by neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, , and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

chronic traumatic encephalopathy · punch-drunk syndrome

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.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,603 matched papers (4,342 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    20 matched on ClinicalTrials.gov (3 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

5,603

5,603 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,603 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).

4,342 in the last 10 years · low confidence

Phrase hits: 5,555 · MeSH hits: 52

Open Europe PMC search

Who's working on it?

1,053

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.

  1. 01
    Mez J32 papers · 2026

    From the Boston University Alzheimer's Disease Research Center and Chronic Traumatic Encephalopathy Center (M.U., E.N., S.D., B.A., N.S., A.S., J.P., J.D.C., D.D., B.D., L.G., B.H., D.K., N.K., R.C.C., V.E.A., R.A.S., T.D.S., Y.T., A.C.M., M.L.A., J.M.), Framingham Heart Study (R.B., A.C.M.), Departments of Pathology and Laboratory Medicine (J.D.C., T.D.S., A.C.M.), Neurology (B.D., B.H., D.K., R.C.C., R.A.S., A.C.M., M.L.A., J.M.), Psychiatry (L.G.), Radiology (L.G.), Ophthalmology (L.G.), and Biomedical Engineering (L.G.), Boston University Chobanian & Avedisian School of Medicine; Departments of Applied Social Sciences (S.W.C., D.R.) and Biomedical Engineering (L.G.), Boston University; Department of Biostatistics (F.T.-Z., Z.B., B.M., J.P., Y.T.), Boston University School of Public Health; Spaulding Rehabilitation Hospital (D.D.), Charlestown; Braintree Rehabilitation Hospital (B.D., D.K.); Department of Rehabilitation and Human Performance (K.D.-O.C.), Brain Injury Research Center, Department of Pathology (J.C.), Department of Artificial Intelligence & Human Health, Nash Family Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, and Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY; VA Boston Healthcare System (B.H., N.K., V.E.A., T.D.S., A.C.M.); Department of Neurosurgery (R.C.C.), Emerson Hospital, Concord; and VA Bedford Healthcare System (V.E.A., T.D.S., A.C.M.), MA.

    Papers in Europe PMC
  2. 02
    Tripodis Y26 papers · 2026

    From the Boston University Alzheimer's Disease Research Center and Chronic Traumatic Encephalopathy Center (M.U., E.N., S.D., B.A., N.S., A.S., J.P., J.D.C., D.D., B.D., L.G., B.H., D.K., N.K., R.C.C., V.E.A., R.A.S., T.D.S., Y.T., A.C.M., M.L.A., J.M.), Framingham Heart Study (R.B., A.C.M.), Departments of Pathology and Laboratory Medicine (J.D.C., T.D.S., A.C.M.), Neurology (B.D., B.H., D.K., R.C.C., R.A.S., A.C.M., M.L.A., J.M.), Psychiatry (L.G.), Radiology (L.G.), Ophthalmology (L.G.), and Biomedical Engineering (L.G.), Boston University Chobanian & Avedisian School of Medicine; Departments of Applied Social Sciences (S.W.C., D.R.) and Biomedical Engineering (L.G.), Boston University; Department of Biostatistics (F.T.-Z., Z.B., B.M., J.P., Y.T.), Boston University School of Public Health; Spaulding Rehabilitation Hospital (D.D.), Charlestown; Braintree Rehabilitation Hospital (B.D., D.K.); Department of Rehabilitation and Human Performance (K.D.-O.C.), Brain Injury Research Center, Department of Pathology (J.C.), Department of Artificial Intelligence & Human Health, Nash Family Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, and Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY; VA Boston Healthcare System (B.H., N.K., V.E.A., T.D.S., A.C.M.); Department of Neurosurgery (R.C.C.), Emerson Hospital, Concord; and VA Bedford Healthcare System (V.E.A., T.D.S., A.C.M.), MA.

    Papers in Europe PMC
  3. 03
    McKee AC18 papers · 2026

    Boston University Alzheimer's Disease and CTE Center, Boston University School of Medicine, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Alosco ML17 papers · 2026

    From the Boston University Alzheimer's Disease Research Center and Chronic Traumatic Encephalopathy Center (M.U., E.N., S.D., B.A., N.S., A.S., J.P., J.D.C., D.D., B.D., L.G., B.H., D.K., N.K., R.C.C., V.E.A., R.A.S., T.D.S., Y.T., A.C.M., M.L.A., J.M.), Framingham Heart Study (R.B., A.C.M.), Departments of Pathology and Laboratory Medicine (J.D.C., T.D.S., A.C.M.), Neurology (B.D., B.H., D.K., R.C.C., R.A.S., A.C.M., M.L.A., J.M.), Psychiatry (L.G.), Radiology (L.G.), Ophthalmology (L.G.), and Biomedical Engineering (L.G.), Boston University Chobanian & Avedisian School of Medicine; Departments of Applied Social Sciences (S.W.C., D.R.) and Biomedical Engineering (L.G.), Boston University; Department of Biostatistics (F.T.-Z., Z.B., B.M., J.P., Y.T.), Boston University School of Public Health; Spaulding Rehabilitation Hospital (D.D.), Charlestown; Braintree Rehabilitation Hospital (B.D., D.K.); Department of Rehabilitation and Human Performance (K.D.-O.C.), Brain Injury Research Center, Department of Pathology (J.C.), Department of Artificial Intelligence & Human Health, Nash Family Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, and Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY; VA Boston Healthcare System (B.H., N.K., V.E.A., T.D.S., A.C.M.); Department of Neurosurgery (R.C.C.), Emerson Hospital, Concord; and VA Bedford Healthcare System (V.E.A., T.D.S., A.C.M.), MA.

    Papers in Europe PMC
  5. 05
    Alosco M15 papers · 2026

    Department of Biomedical Engineering, Boston University, Boston, MA, USA.

    Papers in Europe PMC
  6. 06
    Stern RA15 papers · 2026

    From the Boston University Alzheimer's Disease Research Center and Chronic Traumatic Encephalopathy Center (M.U., E.N., S.D., B.A., N.S., A.S., J.P., J.D.C., D.D., B.D., L.G., B.H., D.K., N.K., R.C.C., V.E.A., R.A.S., T.D.S., Y.T., A.C.M., M.L.A., J.M.), Framingham Heart Study (R.B., A.C.M.), Departments of Pathology and Laboratory Medicine (J.D.C., T.D.S., A.C.M.), Neurology (B.D., B.H., D.K., R.C.C., R.A.S., A.C.M., M.L.A., J.M.), Psychiatry (L.G.), Radiology (L.G.), Ophthalmology (L.G.), and Biomedical Engineering (L.G.), Boston University Chobanian & Avedisian School of Medicine; Departments of Applied Social Sciences (S.W.C., D.R.) and Biomedical Engineering (L.G.), Boston University; Department of Biostatistics (F.T.-Z., Z.B., B.M., J.P., Y.T.), Boston University School of Public Health; Spaulding Rehabilitation Hospital (D.D.), Charlestown; Braintree Rehabilitation Hospital (B.D., D.K.); Department of Rehabilitation and Human Performance (K.D.-O.C.), Brain Injury Research Center, Department of Pathology (J.C.), Department of Artificial Intelligence & Human Health, Nash Family Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, and Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY; VA Boston Healthcare System (B.H., N.K., V.E.A., T.D.S., A.C.M.); Department of Neurosurgery (R.C.C.), Emerson Hospital, Concord; and VA Bedford Healthcare System (V.E.A., T.D.S., A.C.M.), MA.

    Papers in Europe PMC
  7. 07
    Bernick C13 papers · 2026

    Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV, USA.

    Papers in Europe PMC
  8. 08
    Stein TD13 papers · 2026

    From the Boston University Alzheimer's Disease Research Center and Chronic Traumatic Encephalopathy Center (M.U., E.N., S.D., B.A., N.S., A.S., J.P., J.D.C., D.D., B.D., L.G., B.H., D.K., N.K., R.C.C., V.E.A., R.A.S., T.D.S., Y.T., A.C.M., M.L.A., J.M.), Framingham Heart Study (R.B., A.C.M.), Departments of Pathology and Laboratory Medicine (J.D.C., T.D.S., A.C.M.), Neurology (B.D., B.H., D.K., R.C.C., R.A.S., A.C.M., M.L.A., J.M.), Psychiatry (L.G.), Radiology (L.G.), Ophthalmology (L.G.), and Biomedical Engineering (L.G.), Boston University Chobanian & Avedisian School of Medicine; Departments of Applied Social Sciences (S.W.C., D.R.) and Biomedical Engineering (L.G.), Boston University; Department of Biostatistics (F.T.-Z., Z.B., B.M., J.P., Y.T.), Boston University School of Public Health; Spaulding Rehabilitation Hospital (D.D.), Charlestown; Braintree Rehabilitation Hospital (B.D., D.K.); Department of Rehabilitation and Human Performance (K.D.-O.C.), Brain Injury Research Center, Department of Pathology (J.C.), Department of Artificial Intelligence & Human Health, Nash Family Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, and Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY; VA Boston Healthcare System (B.H., N.K., V.E.A., T.D.S., A.C.M.); Department of Neurosurgery (R.C.C.), Emerson Hospital, Concord; and VA Bedford Healthcare System (V.E.A., T.D.S., A.C.M.), MA.

    Papers in Europe PMC
  9. 09
    McKee A12 papers · 2026

    Boston University Alzheimer's Disease Research Center, Boston, MA, USA

    Papers in Europe PMC
  10. 10
    Martin B10 papers · 2026

    From the Boston University Alzheimer's Disease Research Center and Chronic Traumatic Encephalopathy Center (M.U., E.N., S.D., B.A., N.S., A.S., J.P., J.D.C., D.D., B.D., L.G., B.H., D.K., N.K., R.C.C., V.E.A., R.A.S., T.D.S., Y.T., A.C.M., M.L.A., J.M.), Framingham Heart Study (R.B., A.C.M.), Departments of Pathology and Laboratory Medicine (J.D.C., T.D.S., A.C.M.), Neurology (B.D., B.H., D.K., R.C.C., R.A.S., A.C.M., M.L.A., J.M.), Psychiatry (L.G.), Radiology (L.G.), Ophthalmology (L.G.), and Biomedical Engineering (L.G.), Boston University Chobanian & Avedisian School of Medicine; Departments of Applied Social Sciences (S.W.C., D.R.) and Biomedical Engineering (L.G.), Boston University; Department of Biostatistics (F.T.-Z., Z.B., B.M., J.P., Y.T.), Boston University School of Public Health; Spaulding Rehabilitation Hospital (D.D.), Charlestown; Braintree Rehabilitation Hospital (B.D., D.K.); Department of Rehabilitation and Human Performance (K.D.-O.C.), Brain Injury Research Center, Department of Pathology (J.C.), Department of Artificial Intelligence & Human Health, Nash Family Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, and Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY; VA Boston Healthcare System (B.H., N.K., V.E.A., T.D.S., A.C.M.); Department of Neurosurgery (R.C.C.), Emerson Hospital, Concord; and VA Bedford Healthcare System (V.E.A., T.D.S., A.C.M.), MA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

20 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 2,041 trials are registered for dementia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

low confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: dementia

2,041

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

16 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

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)

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 Dementia pugilistica — check Associations / patient organisations on that page.

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.

"Dementia pugilistica" OR "Boxer's dementia" OR "Chronic traumatic encephalopathy" OR "Punch-drunk syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Brain Injury, Chronic

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

"Dementia pugilistica" OR "Boxer's dementia" OR "Chronic traumatic encephalopathy" OR "Punch-drunk syndrome" OR "Brain Injury, Chronic"

Interventional trials matched via: phrase, 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: 20 interventional · 16 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"dementia"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

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 (5603) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:13:01.445Z