ORPHA:275872
Frontotemporal dementia with motor neuron disease
Also known as: FTD-ALS · FTD-MND · Frontotemporal dementia with amyotrophic lateral sclerosis
Clinical definition (Orphanet)
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is , with death occurring 2-5 years after onset.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
2,987
2,987 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=183) is 38.
2,987 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
2,200 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 2,044 trials are registered for dementia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
2,044
trials for dementia, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
1,606
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Borroni B11 papers · 2025
Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Papers in Europe PMC - 02Dickson DW10 papers · 2026
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Papers in Europe PMC - 03Piguet O9 papers · 2026
The University of Sydney, School of Psychology and Brain & Mind Centre, Sydney, Australia.
Papers in Europe PMC - 04Seelaar H9 papers · 2025
Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 05Gitler AD7 papers · 2026
Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America.
Papers in Europe PMC - 06Hartikainen P7 papers · 2026
Neuro Center - Neurology, Kuopio University Hospital, Kuopio, Finland.
Papers in Europe PMC - 07Krüger J7 papers · 2026
Research Unit of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland.
Papers in Europe PMC - 08Petrucelli L7 papers · 2026
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.
Papers in Europe PMC - 09Rohrer JD7 papers · 2025
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Papers in Europe PMC - 10Solje E7 papers · 2026
Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland eino.solje@uef.fi.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
2,044 interventional trials matched dementia, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
Observational and natural-history studies
2 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
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 below but are not added to the query string.
"Frontotemporal dementia with motor neuron disease" OR "FTD-ALS" OR "FTD-MND" OR "Frontotemporal dementia with amyotrophic lateral sclerosis" OR "FTDALS" OR "frontotemporal dementia with ALS"
MeSH descriptor terms unioned into the query: Frontotemporal Dementia With Motor Neuron Disease
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Frontotemporal dementia with motor neuron disease" OR "FTD-ALS" OR "FTD-MND" OR "Frontotemporal dementia with amyotrophic lateral sclerosis" OR "FTDALS" OR "frontotemporal dementia with ALS" OR "hereditary dementia"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C566288 UMLS:C3888102
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; 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 (2987) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity