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ORPHA:313808

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

low confidenceDisorder

Also known as: ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids · FPSG · Familial dementia, Neumann type · Familial progressive subcortical gliosis · GPSC · HDLS · Hereditary diffuse leukoencephalopathy with spheroids · POLD · Pigmentary orthochromatic leukodystrophy · Subcortical gliosis of Neumann

Publications

755

Trials

9

Interventional, condition-specific

Researchers

1,425

Distinct authors in sample

Gene link

CSF1R

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare leukodystrophy characterized by cognitive impairment, neuropsychiatric features, motor dysfunction involving parkinsonian symptoms, gait disturbances, spasticity and speech impairment. , stroke-like episodes, sensory dysfunction, dizziness, fatigue, urinary and fecal incontinence are commonly observed in affected individuals. Neuroaxonal spheroids and pigmented (iron or lipofuscin) macrophages and glial cells, together with diffuse myelin loss and axonal destruction, are major histopathological hallmarks.

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 (13)

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia · CSF1R-related ALSP · CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia · adult-onset leukoencephalopathy with axonal spheroids and pigmented glia · autosomal dominant leukoencephalopathy with neuroaxonal spheroids · dementia, familial, Neumann type · familial dementia, Neumann type · familial progressive subcortical gliosis · gliosis, familial progressive subcortical · leukoencephalopathy with neuroaxonal spheroids, autosomal dominant · leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia · pigmentary orthochromatic leukodystrophy · subcortical gliosis of Neumann

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

    Definitive — CSF1R

  2. LiteraturePresent

    755 matched papers (538 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

    9 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?

Yes — we know a specific gene responsible (CSF1R).

GenCC classification: Definitive.

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?

755

755 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=5449) is 41.

755 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).

538 in the last 10 years · low confidence

Phrase hits: 755 · MeSH hits: 11

Open Europe PMC search

Who's working on it?

1,425

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
    Wszolek ZK44 papers · 2026

    From the Departments of Neurology (T.K., Z.K.W.) and Neuroscience (K.K., D.W.D.), Mayo Clinic, Jacksonville, FL; and Department of Molecular Genetics (T.I.), Brain Research Institute, Niigata University, Niigata, Japan. Dr. Konno is currently with the Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan. Wszolek.Zbigniew@mayo.edu konno_t@bri.niigata-u.ac.jp.

    Papers in Europe PMC
  2. 02
    Dickson DW19 papers · 2026

    From the Departments of Neurology (T.K., Z.K.W.) and Neuroscience (K.K., D.W.D.), Mayo Clinic, Jacksonville, FL; and Department of Molecular Genetics (T.I.), Brain Research Institute, Niigata University, Niigata, Japan. Dr. Konno is currently with the Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.

    Papers in Europe PMC
  3. 03
    Dulski J14 papers · 2026

    Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224.

    Papers in Europe PMC
  4. 04
    Ross OA13 papers · 2026

    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

    Papers in Europe PMC
  5. 05
    Ikeuchi T11 papers · 2026

    From the Departments of Neurology (T.K., Z.K.W.) and Neuroscience (K.K., D.W.D.), Mayo Clinic, Jacksonville, FL; and Department of Molecular Genetics (T.I.), Brain Research Institute, Niigata University, Niigata, Japan. Dr. Konno is currently with the Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.

    Papers in Europe PMC
  6. 06
    Wang Y10 papers · 2026

    Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  7. 07
    Li Y8 papers · 2026

    Xiamen Key Laboratory of Brain Center, The First Affiliated Hospital of Xiamen University, Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, School of Medicine, Xiamen University, Xiamen, Fujian, 361102, China.

    Papers in Europe PMC
  8. 08
    Uitti RJ8 papers · 2025

    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

    Papers in Europe PMC
  9. 09
    Hayer SN7 papers · 2026

    Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  10. 10
    Huang X7 papers · 2025

    Basic Medical Sciences, School of Medicine, Xiamen University, Xiamen, Fujian, 361102, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).

low confidence · 91.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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.

"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" OR "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids" OR "Familial dementia, Neumann type" OR "Familial progressive subcortical gliosis" OR "Hereditary diffuse leukoencephalopathy with spheroids" OR "Pigmentary orthochromatic leukodystrophy" OR "Subcortical gliosis of Neumann" OR "Subcortical gliosis of the Neumann" OR "CSF1R-related ALSP" OR "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" OR "dementia, familial, Neumann type" OR "gliosis, familial progressive subcortical" OR "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant" OR "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hereditary Diffuse Leukoencephalopathy with Spheroids

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

"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" OR "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids" OR "Familial dementia, Neumann type" OR "Familial progressive subcortical gliosis" OR "Hereditary diffuse leukoencephalopathy with spheroids" OR "Pigmentary orthochromatic leukodystrophy" OR "Subcortical gliosis of Neumann" OR "Subcortical gliosis of the Neumann" OR "CSF1R-related ALSP" OR "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" OR "dementia, familial, Neumann type" OR "gliosis, familial progressive subcortical" OR "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant" OR "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia" OR "CSF1R"

Recall-expansion terms: CSF1R

Interventional trials matched via: phrase, 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: 9 interventional · 5 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: ALSP; FPSG; GPSC; HDLS; POLD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 5 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (755) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:59:18.363Z