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ORPHA:171629

Autosomal recessive spastic paraplegia type 35

high confidenceDisorder

Also known as: SPG35

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

Publications

192

72.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,525

Distinct authors in sample

Gene link

FA2H

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

spastic paraplegia type 35 is a rare form of spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and . White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.

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 (5)

FA2H hereditary spastic paraplegia · autosomal recessive spastic paraplegia type 35 · hereditary spastic paraplegia 35 · hereditary spastic paraplegia caused by mutation in FA2H · hereditary spastic paraplegia type 35

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 — FA2H

  2. LiteraturePresent

    192 matched papers (143 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 (FA2H).

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?

192

192 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.

192 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).

143 in the last 10 years · high confidence · 72.9th percentile (publications denominator)

Phrase hits: 192 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,525

Distinct author names in 192 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
    Schüle R11 papers · 2022

    Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

    Papers in Europe PMC
  2. 02
    Schöls L10 papers · 2025

    Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

    Papers in Europe PMC
  3. 03
    Blackstone C9 papers · 2024

    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892, USA.

    Papers in Europe PMC
  4. 04
    Züchner S9 papers · 2025

    Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.

    Papers in Europe PMC
  5. 05
    Santorelli FM8 papers · 2025

    Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.

    Papers in Europe PMC
  6. 06
    Houlden H7 papers · 2024

    Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.

    Papers in Europe PMC
  7. 07
    Bauer P6 papers · 2025

    Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.

    Papers in Europe PMC
  8. 08
    Stevanin G6 papers · 2021

    Sorbonne Université, Paris, France.

    Papers in Europe PMC
  9. 09
    Synofzik M6 papers · 2025

    Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

    Papers in Europe PMC
  10. 10
    De Jonghe P5 papers · 2021

    Neurogenetics Group, VIB-Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium.

    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 recessive spastic paraplegia type 35" OR "SPG35" OR "FA2H hereditary spastic paraplegia" OR "hereditary spastic paraplegia 35" OR "hereditary spastic paraplegia caused by mutation in FA2H" OR "hereditary spastic paraplegia type 35"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia

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

"Autosomal recessive spastic paraplegia type 35" OR "SPG35" OR "FA2H hereditary spastic paraplegia" OR "hereditary spastic paraplegia 35" OR "hereditary spastic paraplegia caused by mutation in FA2H" OR "hereditary spastic paraplegia type 35" OR "Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia" OR "FA2H"

Recall-expansion terms: FA2H

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 2026-07-27T08:40:45.568Z