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ORPHA:100985

Autosomal dominant spastic paraplegia type 4

medium confidenceDisorder

Also known as: SPG4

Publications

94

61.2th percentile

Trials

1

Interventional, condition-specific

Researchers

641

Distinct authors in sample

Gene link

SPAST

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex is also reported with additional manifestations including cognitive impairment, cerebellar , and . A faster disease progression is noted in patients with a later age of onset.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

SPAST hereditary spastic paraplegia · autosomal dominant spastic paraplegia type 4 · hereditary spastic paraplegia 4 · hereditary spastic paraplegia caused by mutation in SPAST · hereditary spastic paraplegia type 4

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 — SPAST

  2. LiteraturePresent

    94 matched papers (74 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

    1 matched on ClinicalTrials.gov (1 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 (SPAST).

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?

94

94 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.

94 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).

74 in the last 10 years · medium confidence · 61.2th percentile (publications denominator)

Phrase hits: 93 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

641

Distinct author names in 94 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
    Schöls L10 papers · 2026

    German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de.

    Papers in Europe PMC
  2. 02
    Rattay TW9 papers · 2026

    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  3. 03
    Schüle R9 papers · 2026

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

    Papers in Europe PMC
  4. 04
    González-Salazar C4 papers · 2026

    Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

    Papers in Europe PMC
  5. 05
    Hengel H4 papers · 2026

    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  6. 06
    Kessler C4 papers · 2026

    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  7. 07
    Völker M4 papers · 2023

    Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

    Papers in Europe PMC
  8. 08
    Baas PW3 papers · 2026

    Department of Neurobiology and Anatomy, Drexel University College of Medicine, 2900 Queen Lane, Philadelphia, PA 19129, USA pbaas@drexelmed.edu.

    Papers in Europe PMC
  9. 09
    Guillaud-Bataille M3 papers · 2025

    Département de génétique médicale, AP-HP, Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, CGMC, Hôpital Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  10. 10
    Liu Y3 papers · 2024

    State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 102 trials are registered for paraplegia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: paraplegia

102

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

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

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.

"Autosomal dominant spastic paraplegia type 4" OR "SPAST hereditary spastic paraplegia" OR "hereditary spastic paraplegia 4" OR "hereditary spastic paraplegia caused by mutation in SPAST" OR "hereditary spastic paraplegia type 4"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic paraplegia 4, autosomal dominant

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

"Autosomal dominant spastic paraplegia type 4" OR "SPAST hereditary spastic paraplegia" OR "hereditary spastic paraplegia 4" OR "hereditary spastic paraplegia caused by mutation in SPAST" OR "hereditary spastic paraplegia type 4" OR "Spastic paraplegia 4, autosomal dominant" OR "SPAST"

Recall-expansion terms: SPAST

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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"paraplegia"

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: SPG4

Confidence reasoning

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

Ingested 2026-07-27T07:08:22.662Z