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 3 strategies returned hits (phrase).
Publications
144
66.4th percentile
Trials
0
Interventional, condition-specific
Researchers
882
Distinct authors in sample
Gene link
PNPLA6
Strong
Readiness
2/6
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.”
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 — PNPLA6
- LiteraturePresent
144 matched papers (101 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 (PNPLA6).
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?
144
144 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.
144 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).
101 in the last 10 years · high confidence · 66.4th percentile (publications denominator)
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 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 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"
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" OR "PNPLA6"
Recall-expansion terms: PNPLA6
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 2026-07-27T07:37:45.996Z