ORPHA:97353
Dementia pugilistica
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019976
- MeSH:D020208
- UMLS:C0149843
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5,603 matched papers (4,342 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
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)
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?
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=5449) is 41.
5,603 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).
4,342 in the last 10 years · low confidence
Phrase hits: 5,555 · MeSH hits: 52
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.
- 01Mez 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 - 02Tripodis 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 - 03McKee AC18 papers · 2026
Boston University Alzheimer's Disease and CTE Center, Boston University School of Medicine, Boston, MA, USA.
Papers in Europe PMC - 04Alosco 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 - 05Alosco M15 papers · 2026
Department of Biomedical Engineering, Boston University, Boston, MA, USA.
Papers in Europe PMC - 06Stern 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 - 07Bernick C13 papers · 2026
Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV, USA.
Papers in Europe PMC - 08Stein 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 - 09McKee A12 papers · 2026
Boston University Alzheimer's Disease Research Center, Boston, MA, USA
Papers in Europe PMC - 10Martin 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 27 July 2026
20 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.5th percentile).
low confidence · 94.5th 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.
- NCT04331392·RECRUITING·Online Memory Intervention for Individuals with Traumatic Brain Injury
Conditions: Brain Injuries, Traumatic · Brain Injury Traumatic Severe · Brain Injury Traumatic Moderate · Brain Injury, Chronic·Matched via MeSH
- NCT06254469·RECRUITING·Visualizing Brain Proteinopathies Using [F-18]Flornaptitril-PET in the Prediction of Clinical Progression of Mild Cognitive Impairment With Either Suspected Chronic Traumatic Encephalopathy or Alzheimer's Disease
Conditions: Alzheimer Disease · Chronic Traumatic Encephalopathy·Matched via name phrase
- NCT02795052·RECRUITING·Neurologic Stem Cell Treatment Study
Conditions: Neurologic Disorders · Nervous System Diseases · Neurodegenerative Diseases · Neurological Disorders·Matched via name phrase
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
- NCT05326750·RECRUITING·Non-invasive Neurostimulation as a Tool for Diagnostics and Management for Neurodegenerative Diseases
Conditions: Alzheimer Disease · Frontotemporal Dementia · Dementia With Lewy Bodies·Matched via name phrase
- NCT07176286·RECRUITING·18F-mFBG Cardiac Uptake With Lewy Body Dementia
Conditions: Parkinson Disease (PD) · Lewy Body Dementia (LBD)·Matched via name phrase
- NCT06650527·RECRUITING·Effect of Cognitive Empathy Training on Dementia Caregivers
Conditions: Caregivers of People Living With Dementia · Dementia·Matched via name phrase
- NCT06978946·NOT YET RECRUITING·Deep Cervical Lymphaticovenous Anastomosis Surgery for Moderate-to-Advanced Dementia Patients
Conditions: Alzheimer Disease · Lewy Body Dementia (LBD) · Frontotemporal Dementia (FTD) · Dementia·Matched via name phrase
- NCT07701044·NOT YET RECRUITING·Merton Music Therapy Community-based Dementia Project
Conditions: Dementia (Diagnosis)·Matched via name phrase
- NCT07651319·RECRUITING·Interleukine-2 (IL-2) Plus Semaglutide in Alzheimer's Disease
Conditions: Alzheimer Dementia (AD)·Matched via name phrase
- NCT05590637·RECRUITING·Comparing Antipsychotic Medications in LBD Over Time
Conditions: Parkinson's Disease Psychosis · Dementia With Lewy Bodies·Matched via name phrase
- NCT06934720·NOT YET RECRUITING·VR-based Physical Activity and Reminiscence Therapy
Conditions: Dementia · Neurodegenerative Disease · Mild Cognitive Impairment (MCI) · Virtual Reality·Matched via name phrase
- NCT06237218·RECRUITING·Effects of the COTID (Community Occupational Therapist in Dementia) Program and Usual Occupational Therapy Care on Recurrence of Falls at 12 Months in Elderly People With Neurocognitive Disorders Who Had Been Hospitalized for Falls, After Their Return Home
Conditions: Nervous System Diseases·Matched via name phrase
- NCT06930560·RECRUITING·HEARS-NPS: Addressing Hearing Loss as a Common Unmet Contributor of Neuropsychiatric Symptoms
Conditions: Alzheimer Disease · Dementia · Hearing Loss · Cognitive Impairment·Matched via name phrase
- NCT05515224·RECRUITING·5-Cog 2.0: A Pragmatic Clinical Trial
Conditions: Dementia · Cognitive Impairment·Matched via name phrase
- NCT06419257·RECRUITING·Investigating the Efficacy of an Augmented Virtual Reality Driving Simulator on Institutionalized Dementia Patients
Conditions: Advance Dementia·Matched via name phrase
- NCT05586581·RECRUITING·SV2A & TSPO PET Imaging Measures to Reveal Mechanisms of HIV Neuropathogenesis During Antiretroviral Therapy
Conditions: HIV Associated Neurocognitive Disorder · HIV Dementia · HIV Encephalitis · Healthy·Matched via name phrase
- NCT06723015·ENROLLING BY INVITATION·Tau PET Outcomes With Anti-amyloid Immunotherapies
Conditions: Cognitive Impairment, Mild · Dementia, Mild · Alzheimer Disease·Matched via name phrase
- NCT07284290·RECRUITING·Elucidating the Role of Cholinergic Degeneration in Cognitive Fluctuations in Lewy Body Dementia
Conditions: Dementia With Lewy Bodies · Parkinson Disease Dementia · Healthy Controls·Matched via name phrase
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
- NCT07302503·RECRUITING·Pilot Study Evaluating brainQuant's Ability to Detect Alterations in White Matter in Diffusion MRI, Indicative of Post-traumatic Lesions
Conditions: Chronic Traumatic Encephalopathy·Matched via name phrase
- NCT07648901·NOT YET RECRUITING·Scale-Up Evaluation Trial of the Diabetes Prevention Program to Improve Obesity and Cardiometabolic Health After Traumatic Brain Injury
Conditions: Traumatic Brain Injury · Brain Injuries, Traumatic · Brain Injury, Chronic·Matched via MeSH
- NCT06860828·ENROLLING BY INVITATION·The DIAGNOSE CTE Research Project-II
Conditions: Chronic Traumatic Encephalopathy (CTE) · Alzheimer Disease · Alzheimer Disease and Related Dementias (ADRD) · Brain Injuries, Traumatic·Matched via name phrase
- NCT03218332·RECRUITING·Post-Concussion Syndrome in Professional Athletes: A Multidisciplinary Study
Conditions: Chronic Traumatic Encephalopathy·Matched via name phrase
- NCT04124029·RECRUITING·Contributions of mTBI to Neurodegeneration Due to Chronic Traumatic Encephalopathy (CTE) and Alzheimer's Disease (AD)
Conditions: Mild Traumatic Brain Injury · Moderate Traumatic Brain Injury · Mild Cognitive Impairment·Matched via name phrase
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.
"Dementia pugilistica" OR "Boxer's dementia" OR "Chronic traumatic encephalopathy" OR "Punch-drunk syndrome"
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