ORPHA:313772
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Also known as: AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome · Autosomal recessive spastic ataxia type 5 · SPAX5
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
139
68th percentile
Trials
0
Interventional, condition-specific
Researchers
1,026
Distinct authors in sample
Gene link
AFG3L2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Early-onset spastic -myoclonic - syndrome is a rare spastic disorder characterized by childhood onset of slowly lower limb spastic paraparesis and cerebellar (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor (including muscle weakness and distal amyotrophy in lower extremities) and myoclonic . Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
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:0013776
- OMIM:614487
- UMLS:C3280977
Additional Mondo synonyms (5)
AFG3L2 autosomal recessive spastic ataxia · AFG3L2-related spastic ataxia-neuropathy syndrome · autosomal recessive spastic ataxia caused by mutation in AFG3L2 · autosomal recessive spastic ataxia type 5 · spastic ataxia type 5
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.
- Gene identifiedPresent
Definitive — AFG3L2
- LiteraturePresent
139 matched papers (109 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 trialPartial
None under the specific name; 3 for broader category spastic ataxia
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 (AFG3L2).
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?
139
139 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.
139 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).
109 in the last 10 years · high confidence · 68th percentile (publications denominator)
Phrase hits: 139 · MeSH hits: 0
Who's working on it?
1,026
Distinct author names in 139 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.
- 01Schöls L9 papers · 2025
German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
Papers in Europe PMC - 02Wang Y8 papers · 2024
Laboratory of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden. College of Medicine, Swansea University, Swansea, United Kingdom. Translational Medicine, GlaxoSmithKline R&D China, Addenbrookes Hospital, Cambridge, United Kingdom. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom. Willink Biochemical Genetics Unit, Genetic Medicine, St. Mary’s Hospital, Manchester, United Kingdom. Paediatric Neurology and Department of Ophthalmology, Barts Health NHS Trust, London, United Kingdom. Scientific Institute IRCCS Eugenio Medea, Conegliano Research Centre, Conegliano, Italy. Scientific Institute IRCCS Eugenio Medea, Laboratory of Molecular Biology, Lecco, Italy. Tokyo Medical University, Ibaraki Medical Center, Ami Ibaraki, Japan. Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan. Junshin Clinic, Bile Acid Institute, Tokyo, Japan. Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. Endocrinology Unit, BHF Centre for Cardiovascular Science, The Queen’s Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom. Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany. German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany. Developmental and Molecular Pathways, Novartis Institutes for BioMedical Research, Basel, Switzerland. Neurology, University Hospital Basel, Basel, Switzerland. Rare Neurological Diseases Unit, Department of Neurology, University Hospital “Attikon,” Medical School of the University of Athens, Athens, Greece. Center for Nuclear Receptors and Cell Signaling, University of Houston, Houston, Texas, USA. Department of Biosciences and Nutrition, Center for Biosciences, Stockholm, Sweden. Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet and Karolinska University Hospital Huddinge, Stockholm, Sweden.
Papers in Europe PMC - 03Griffiths WJ7 papers · 2024
Laboratory of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden. College of Medicine, Swansea University, Swansea, United Kingdom. Translational Medicine, GlaxoSmithKline R&D China, Addenbrookes Hospital, Cambridge, United Kingdom. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom. Willink Biochemical Genetics Unit, Genetic Medicine, St. Mary’s Hospital, Manchester, United Kingdom. Paediatric Neurology and Department of Ophthalmology, Barts Health NHS Trust, London, United Kingdom. Scientific Institute IRCCS Eugenio Medea, Conegliano Research Centre, Conegliano, Italy. Scientific Institute IRCCS Eugenio Medea, Laboratory of Molecular Biology, Lecco, Italy. Tokyo Medical University, Ibaraki Medical Center, Ami Ibaraki, Japan. Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan. Junshin Clinic, Bile Acid Institute, Tokyo, Japan. Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. Endocrinology Unit, BHF Centre for Cardiovascular Science, The Queen’s Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom. Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany. German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany. Developmental and Molecular Pathways, Novartis Institutes for BioMedical Research, Basel, Switzerland. Neurology, University Hospital Basel, Basel, Switzerland. Rare Neurological Diseases Unit, Department of Neurology, University Hospital “Attikon,” Medical School of the University of Athens, Athens, Greece. Center for Nuclear Receptors and Cell Signaling, University of Houston, Houston, Texas, USA. Department of Biosciences and Nutrition, Center for Biosciences, Stockholm, Sweden. Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet and Karolinska University Hospital Huddinge, Stockholm, Sweden.
Papers in Europe PMC - 04De Michele G6 papers · 2023
Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy.
Papers in Europe PMC - 05Fu Y6 papers · 2025
Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Medical University, Fuzhou, 350005, China. fuying@fjmu.edu.cn.
Papers in Europe PMC - 06Goizet C6 papers · 2023
University Bordeaux, Equipe « Neurogénétique Translationnelle - NRGEN », INCIA CNRS UMR5287 Université Bordeaux and Centre de Reference Maladies Rares « Neurogénétique », Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), 33000 Bordeaux, France.
Papers in Europe PMC - 07Hauser S6 papers · 2025
Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, 72076 Tübingen, Germany.
Papers in Europe PMC - 08Liu Y6 papers · 2025
Department of Preventive Dentistry, Peking University School and Hospital of Stomatology and National Center of Stomatology and National Clinical Research Center for Oral Diseases and National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing, China.
Papers in Europe PMC - 09Maltecca F6 papers · 2026
Ospedale San Raffaele, Via Olgettina 60, 20132 Milan, Italy.
Papers in Europe PMC - 10Schüle R6 papers · 2024
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
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). 3 trials are registered for spastic ataxia, 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.
3 interventional trials matched spastic ataxia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: spastic ataxia
3
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
- NCT06261424·RECRUITING·Effects of a Supervised Rehabilitation Program on Disease Severity in Spastic Ataxias
Conditions: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay · Spastic Paraplegia 7·Matched via name phrase
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.
"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" OR "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" OR "Autosomal recessive spastic ataxia type 5" OR "SPAX5" OR "AFG3L2 autosomal recessive spastic ataxia" OR "AFG3L2-related spastic ataxia-neuropathy syndrome" OR "autosomal recessive spastic ataxia caused by mutation in AFG3L2" OR "spastic ataxia type 5"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" OR "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" OR "Autosomal recessive spastic ataxia type 5" OR "SPAX5" OR "AFG3L2 autosomal recessive spastic ataxia" OR "AFG3L2-related spastic ataxia-neuropathy syndrome" OR "autosomal recessive spastic ataxia caused by mutation in AFG3L2" OR "spastic ataxia type 5" OR "AFG3L2"
Recall-expansion terms: AFG3L2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spastic ataxia"
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T12:58:32.687Z