ORPHA:513436
Autosomal recessive spastic paraplegia type 78
Also known as: SPG78
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
58
56.2th percentile
Trials
0
Interventional, condition-specific
Researchers
446
Distinct authors in sample
Gene link
ATP13A2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare complex spastic paraplegia characterized by mostly adult-onset spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory , and cerebellar symptoms like , dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.
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:0014975
- OMIM:617225
- UMLS:C5567893
Additional Mondo synonyms (4)
ATP13A2 hereditary spastic paraplegia · hereditary spastic paraplegia caused by mutation in ATP13A2 · spastic paraplegia 78, autosomal recessive · spastic paraplegia 78, autosomal recessive; SPG78
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 — ATP13A2
- LiteraturePresent
58 matched papers (58 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 (ATP13A2).
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?
58
58 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.
58 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).
58 in the last 10 years · high confidence · 56.2th percentile (publications denominator)
Phrase hits: 58 · MeSH hits: 0
Who's working on it?
446
Distinct author names in 58 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.
- 01Schüle R4 papers · 2019
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 02Stevanin G4 papers · 2021
Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 75013 Paris, France.
Papers in Europe PMC - 03Bassi MT3 papers · 2025
Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.
Papers in Europe PMC - 04
- 05Santorelli FM3 papers · 2025
Department of Molecular Medicine, IRCCS Stella Maris Foundation, Calambrone, 56128 Pisa, Italy.
Papers in Europe PMC - 06Chen X2 papers · 2023
Department of Immunology and Microbiology, School of Life Sciences, Southern University of Science and Technology, 518055, Shenzhen, Guangdong, China.
Papers in Europe PMC - 07
- 08Dehay B2 papers · 2026
Univ. Bordeaux, CNRS, IMN, Bordeaux, France. benjamin.dehay@u-bordeaux.fr.
Papers in Europe PMC - 09Ishiura H2 papers · 2020
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 113-8655 Tokyo, Japan. hishiura@yahoo.co.jp.
Papers in Europe PMC - 10Jordanova A2 papers · 2022
Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen, 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).
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 recessive spastic paraplegia type 78" OR "SPG78" OR "ATP13A2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in ATP13A2" OR "spastic paraplegia 78, autosomal recessive" OR "spastic paraplegia 78, autosomal recessive; SPG78"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 78" OR "SPG78" OR "ATP13A2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in ATP13A2" OR "spastic paraplegia 78, autosomal recessive" OR "spastic paraplegia 78, autosomal recessive; SPG78" OR "ATP13A2"
Recall-expansion terms: ATP13A2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T17:58:05.329Z