ORPHA:100993
Autosomal dominant spastic paraplegia type 12
Also known as: SPG12
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
105
58.1th percentile
Trials
0
Interventional, condition-specific
Researchers
627
Distinct authors in sample
Gene link
RTN2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A pure form of spastic paraplegia characterized by a childhood- to adulthood-onset of slowly lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011489
- MeSH:C537484
- OMIM:604805
- UMLS:C1858106
Additional Mondo synonyms (4)
RTN2 hereditary spastic paraplegia · autosomal dominant spastic paraplegia type 12 · hereditary spastic paraplegia caused by mutation in RTN2 · hereditary spastic paraplegia type 12
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — RTN2
- LiteraturePresent
105 matched papers (63 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (RTN2).
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?
105
105 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.
105 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).
63 in the last 10 years · high confidence · 58.1th percentile (publications denominator)
Phrase hits: 105 · MeSH hits: 0
Who's working on it?
627
Distinct author names in 105 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.
- 01
- 02Reid E7 papers · 2015
Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke's Hospital, Cambridge, UK. ereid@hgmp.mrc.ac.uk
Papers in Europe PMC - 03Stevanin G6 papers · 2021
Institut du Cerveau et de la Moelle Épinière, Paris, France12Laboratoire de Neurogénétique, École Pratique des Hautes Études-héSam Université, Institut du Cerveau et de la Moelle Épinière, Groupe Hospitalier Pitié-Salpêtrière, Paris, France13Sorbonne Univ.
Papers in Europe PMC - 04Orlacchio A5 papers · 2022
Laboratorio di Neurogenetica, I.R.C.C.S. Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it
Papers in Europe PMC - 05Iqbal Z4 papers · 2017
Department of Neurology, Oslo University Hospital, Oslo, Norway.
Papers in Europe PMC - 06O'Sullivan NC4 papers · 2024
UCD School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, Dublin, Ireland.
Papers in Europe PMC - 07Shirane M4 papers · 2020
Department of Molecular Biology, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Aichi, Japan. shiram@phar.nagoya-cu.ac.jp.
Papers in Europe PMC - 08Denton KR3 papers · 2016
Department of Neuroscience, The University of Connecticut Health Center, Farmington, Connecticut, USA.
Papers in Europe PMC - 09Hübner CA3 papers · 2024
Institute of Clinical Chemistry and Laboratory Diagnostics, Institute of Biochemistry I, Institute of Human Genetics, Electron Microscopy Center Institute of Anatomy I, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany. Zentrum für Molekulare Neurobiologie Hamburg (ZMNH), University Hamburg, Hamburg, Germany. Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne, EPFL, Lausanne, Switzerland. Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Department of Otorhinolaryngology, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany. Laboratory of Molecular Genetics — Genetic Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.
Papers in Europe PMC - 10Koht J3 papers · 2017
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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 12" OR "SPG12" OR "RTN2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in RTN2" OR "hereditary spastic paraplegia type 12"
MeSH descriptor terms unioned into the query: Spastic paraplegia 12, autosomal dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant spastic paraplegia type 12" OR "SPG12" OR "RTN2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in RTN2" OR "hereditary spastic paraplegia type 12" OR "Spastic paraplegia 12, autosomal dominant" OR "RTN2"
Recall-expansion terms: RTN2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T07:09:18.541Z