hereditary spastic paraplegia 6
Findings
No curated finding names hereditary spastic paraplegia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
Definition from the Mondo Disease Ontology (MONDO:0010878), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Impaired vibratory sensationHPOHP:0002495
- Very frequent (80% to 99% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- Spastic paraplegiaHPOHP:0001258
- Very frequent (80% to 99% of cases)
Show the remaining 1
- Urinary incontinenceHPOHP:0000020
- Occasional (5% to 29% of cases)
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.
- NIPA1HGNC:17043
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: hereditary spastic paraplegia 6
- Also called
- autosomal dominant spastic paraplegia type 6FSP3hereditary spastic paraplegia caused by mutation in NIPA1hereditary spastic paraplegia type 6NIPA1 hereditary spastic paraplegiaSPG6