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ORPHA:101011

Autosomal dominant spastic paraplegia type 31

high confidenceDisorder

Also known as: SPG31

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

680

89.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,346

Distinct authors in sample

Gene link

REEP1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare type of spastic paraplegia usually characterized by a pure of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex with additional associated manifestations including peripheral , bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

REEP1 hereditary spastic paraplegia · autosomal dominant spastic paraplegia type 31 · hereditary spastic paraplegia caused by mutation in REEP1 · hereditary spastic paraplegia type 31

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — REEP1

  2. LiteraturePresent

    680 matched papers (469 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 trialPartial

    None under the specific name; 102 for broader category paraplegia

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 (REEP1).

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?

680

680 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.

680 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).

469 in the last 10 years · high confidence · 89.7th percentile (publications denominator)

Phrase hits: 680 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,346

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.

  1. 01
    Santorelli FM9 papers · 2025

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.

    Papers in Europe PMC
  2. 02
    Blackstone C7 papers · 2025

    Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland.

    Papers in Europe PMC
  3. 03
    Schöls L6 papers · 2025

    Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  4. 04
    Zhang J6 papers · 2026

    College of Animal Science and Technology, Yangzhou University, Yangzhou 225009, China.

    Papers in Europe PMC
  5. 05
    Liu X5 papers · 2026

    Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, Shanghai Academy of Natural Sciences (SANS), East China Normal University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Takiyama Y5 papers · 2022

    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi.

    Papers in Europe PMC
  7. 07
    Beetz C4 papers · 2026

    Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

    Papers in Europe PMC
  8. 08
    Chen S4 papers · 2025

    International Center for Aging and Cancer, Hainan Medical University, Haikou 571199, China.

    Papers in Europe PMC
  9. 09
    Durr A4 papers · 2025

    Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  10. 10
    Liu Y4 papers · 2026

    Cancer Hospital, The First Affiliated Hospital and College of Clinical Medicine, Henan University of Science and Technology, Luoyang, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

102 interventional trials matched paraplegia, the broader category — listed below. Those studies are not counted in the condition-specific total.

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

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 31" OR "SPG31" OR "REEP1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in REEP1" OR "hereditary spastic paraplegia type 31"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic Paraplegia 31, Autosomal Dominant

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

"Autosomal dominant spastic paraplegia type 31" OR "SPG31" OR "REEP1 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in REEP1" OR "hereditary spastic paraplegia type 31" OR "Spastic Paraplegia 31, Autosomal Dominant" OR "REEP1"

Recall-expansion terms: REEP1

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"paraplegia"

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase

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

Ingested 2026-07-27T07:12:43.133Z