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ORPHA:100991

Autosomal dominant spastic paraplegia type 10

medium confidenceDisorder

Also known as: SPG10

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

Publications

285

75.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,509

Distinct authors in sample

Gene link

KIF5A

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, spastic paraplegia that can present as either a pure or complex . The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral with upper limb muscle atrophy, moderate and parkinsonism. Deafness and retinitis pigmentosa have also been reported.

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 (4)

KIF5A hereditary spastic paraplegia · autosomal dominant spastic paraplegia type 10 · hereditary spastic paraplegia caused by mutation in KIF5A · hereditary spastic paraplegia type 10

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

    Strong — KIF5A

  2. LiteraturePresent

    285 matched papers (168 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 (KIF5A).

GenCC classification: Strong.

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?

285

285 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.

285 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).

168 in the last 10 years · medium confidence · 75.9th percentile (publications denominator)

Phrase hits: 285 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,509

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
    Bassi MT8 papers · 2025

    IRCCS E. Medea, Laboratory of Molecular Biology, Bosisio Parini Lecco, Italy.

    Papers in Europe PMC
  2. 02
    Schöls L8 papers · 2025

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

    Papers in Europe PMC
  3. 03
    Blackstone C7 papers · 2024

    Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2A-201, 9000 Rockville Pike, Bethesda, MD 20892, USA. Electronic address: blackstc@ninds.nih.gov.

    Papers in Europe PMC
  4. 04
    Martinuzzi A7 papers · 2024

    Medea Scientific Institute (A.M., M.V., G.P.), Conegliano and Bosisio Parini, Treviso, Italy.

    Papers in Europe PMC
  5. 05
    Schüle R7 papers · 2024

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

    Papers in Europe PMC
  6. 06
    Stevanin G7 papers · 2021

    Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 75013 Paris, France.

    Papers in Europe PMC
  7. 07
    Orlacchio A6 papers · 2026

    Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy.

    Papers in Europe PMC
  8. 08
    Ratti A6 papers · 2026

    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center - Università degli Studi di Milano, Milan 20122, Italy.

    Papers in Europe PMC
  9. 09
    Takiyama Y6 papers · 2022

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

    Papers in Europe PMC
  10. 10
    Taroni F6 papers · 2026

    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan 20133, Italy.

    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.

medium 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 10" OR "SPG10" OR "KIF5A hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in KIF5A" OR "hereditary spastic paraplegia type 10"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic paraplegia 10, autosomal dominant

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

"Autosomal dominant spastic paraplegia type 10" OR "SPG10" OR "KIF5A hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in KIF5A" OR "hereditary spastic paraplegia type 10" OR "Spastic paraplegia 10, autosomal dominant" OR "KIF5A"

Recall-expansion terms: KIF5A

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
  • Publication count (285) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:09:08.435Z