hereditary spastic paraplegia 39
Findings
No curated finding names hereditary spastic paraplegia 39 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.
Definition from the Mondo Disease Ontology (MONDO:0012787), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrophy of the spinal cordHPOHP:0006827
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Generalized limb muscle atrophyHPOHP:0009055
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Motor axonal neuropathyHPOHP:0007002
- Frequent (30% to 79% of cases)
- Spastic paraplegia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PNPLA6HGNC:16268
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: hereditary spastic paraplegia 39
- Also called
- autosomal recessive spastic paraplegia type 39hereditary spastic paraplegia caused by mutation in PNPLA6hereditary spastic paraplegia type 39NTE-related motor neuron disorderNTEMNDPNPLA6 hereditary spastic paraplegiaspastic paraplegia due to neuropathy target esterase mutationspastic paraplegia due to NTE mutationSPG39