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ORPHA:171629

Autosomal recessive spastic paraplegia type 35

low confidenceDisorder

Also known as: SPG35

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,399

Trials

0

Interventional, condition-specific

Researchers

1,525

Distinct authors in sample

Gene link

FA2H

Definitive

Readiness

5/6

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.”

5/6 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

    1,399 matched papers (1,044 in last 10 years) Source

  3. Phenotype characterisedPresent

    65 HPO annotations (e.g. Dystonia; Neurodegeneration; Nystagmus) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 104 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)

65

Associated phenotypes · MONDO:0012866

  • Dystonia
  • Neurodegeneration
  • Nystagmus
  • Abnormal periventricular white matter morphology
  • Intellectual disability

Showing 5 of 65 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,399

1,399 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=3967) is 59.

1,399 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,044 in the last 10 years · low confidence

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). 104 trials are registered for paraplegia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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

Broader category: paraplegia

104

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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autosomal recessive spastic paraplegia type 35 — check Associations / patient organisations on that page.

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") OR (MESH:"Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia") OR ("FA2H" OR "FA2H syndrome" OR "FA2H-related")

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"

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; 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 (1399) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:40:45.568Z