ORPHA:139480
Autosomal recessive spastic paraplegia type 39
Also known as: SPG39 · Spastic paraplegia due to NTE mutation · Spastic paraplegia due to neuropathy target esterase mutation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,248
Trials
0
Interventional, condition-specific
Researchers
882
Distinct authors in sample
Gene link
PNPLA6
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare complex spastic paraplegia characterized by upper motor neuron involvement and peripheral with an onset between childhood and early adulthood. Patients present with spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.
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:0012787
- MeSH:C567433
- OMIM:612020
- UMLS:C2677586
Additional Mondo synonyms (8)
NTE-related motor neuron disorder · NTEMND · PNPLA6 hereditary spastic paraplegia · autosomal recessive spastic paraplegia type 39 · hereditary spastic paraplegia caused by mutation in PNPLA6 · hereditary spastic paraplegia type 39 · spastic paraplegia due to NTE mutation · spastic paraplegia due to neuropathy target esterase mutation
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 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 — PNPLA6
- LiteraturePresent
1,248 matched papers (754 in last 10 years) Source
- Phenotype characterisedPresent
18 HPO annotations (e.g. Cerebellar atrophy; Distal amyotrophy; Progressive spastic paraplegia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PNPLA6).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
18
Associated phenotypes · MONDO:0012787
- Cerebellar atrophy
- Distal amyotrophy
- Progressive spastic paraplegia
- Babinski sign
- Ataxia
Showing 5 of 18 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
1,248
1,248 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.
1,248 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).
754 in the last 10 years · low confidence
Phrase hits: 144 · MeSH hits: 0
Who's working on it?
882
Distinct author names in 144 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.
- 01Blackstone 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 - 02Fink JK9 papers · 2020
Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.
Papers in Europe PMC - 03Kretzschmar D8 papers · 2022
Center for Research on Occupational and Environmental Toxicology, Oregon Health & Sciences University, Portland, Oregon, United States of America.
Papers in Europe PMC - 04Richardson RJ7 papers · 2020
Molecular Simulations Laboratory, Department of Environmental Health Sciences, University of Michigan, Ann Arbor, MI, United States.
Papers in Europe PMC - 05Schüle R6 papers · 2020
Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Papers in Europe PMC - 06
- 07Hufnagel RB5 papers · 2024
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 08Synofzik M5 papers · 2024
Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Papers in Europe PMC - 09Hein ND4 papers · 2015
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
Papers in Europe PMC - 10Houlden H4 papers · 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 39 — check Associations / patient organisations on that page.
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 39" OR "SPG39" OR "Spastic paraplegia due to NTE mutation" OR "Spastic paraplegia due to neuropathy target esterase mutation" OR "NTE-related motor neuron disorder" OR "NTEMND" OR "PNPLA6 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in PNPLA6" OR "hereditary spastic paraplegia type 39") OR (MESH:"Spastic Paraplegia 39, Autosomal Recessive") OR ("PNPLA6" OR "PNPLA6 syndrome" OR "PNPLA6-related")MeSH descriptor terms unioned into the query: Spastic Paraplegia 39, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 39" OR "SPG39" OR "Spastic paraplegia due to NTE mutation" OR "Spastic paraplegia due to neuropathy target esterase mutation" OR "NTE-related motor neuron disorder" OR "NTEMND" OR "PNPLA6 hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in PNPLA6" OR "hereditary spastic paraplegia type 39" OR "Spastic Paraplegia 39, Autosomal Recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 (1248) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:37:45.996Z