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hereditary spastic paraplegia 57 (SPG57) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 57

MONDO:0014295

Also known as:SPG57TFG hereditary spastic paraplegiaautosomal recessive spastic paraplegia 57

Overview

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.

GeneticsAutosomal recessive · TFG (chr 3)

OnsetJUVENILE, CHILDHOOD

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Visual loss, Babinski sign, Delayed ability to walk, and Lower limb spasticity and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Babinski sign, Lower limb spasticity, Demyelinating motor neuropathy

Genetic Landscape

TFG function has not been fully characterized.

Hereditary spastic paraplegia 57 is associated with mutations in the TFG gene on chromosome 3.

Diagnosis

Genetic testing for TFG is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 57 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary spastic paraplegia 57.

14 publications have been identified in PubMed for hereditary spastic paraplegia 57. Research spans Basic Science / Preclinical (29%), Diagnostic / Biomarker (21%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Laboratory research	4	29%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615658

Orphanet

European rare disease database

Orphanet:431329

GARD

Genetic and Rare Diseases Info Center

GARD:17712

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hereditary spastic paraplegia 57

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

hereditary spastic paraplegia 57

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications