hereditary spastic paraplegia 57
Findings
No curated finding names hereditary spastic paraplegia 57 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
Definition from the Mondo Disease Ontology (MONDO:0014295), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- Abnormality of peripheral nerve conductionHPOHP:0003134
- Obligate (100% of cases)
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients · Childhood onset
- Demyelinating motor neuropathyHPOHP:0007220
- 2 of 2 reported patients
- Difficulty climbing stairsHPOHP:0003551
- Obligate (100% 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.
- TFGHGNC:11758
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · LiferaOmics · Autosomal recessive · 2026
Where it sits
Other names
6 names
Resolves to: hereditary spastic paraplegia 57
- Also called
- autosomal recessive spastic paraplegia type 57hereditary spastic paraplegia caused by mutation in TFGhereditary spastic paraplegia type 57spastic paraplegia due to partial TFG deficiencySPG57TFG hereditary spastic paraplegia