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hereditary spastic paraplegia 73 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 73

MONDO:0014568

Also known as:CPT1C autosomal dominant pure spastic paraplegiaSPG73autosomal dominant pure spastic paraplegia caused by mutation in CPT1C

Overview

Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

GeneticsAutosomal dominant · CPT1C (chr 19)

ResearchLimited published research (9 articles)

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: Skeletal muscle atrophy, Babinski sign, Difficulty walking (gait disturbance), and Prolonged central motor conduction time and others; and very common findings: Lower limb spasticity, Spastic gait, Degeneration of the lateral corticospinal tracts, and Progressive spastic paraplegia. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CPT1C encodes carnitine palmitoyltransferase 1C (803 aa). Palmitoyl thioesterase specifically expressed in the endoplasmic reticulum of neurons. Modulates the trafficking of the glutamate receptor, AMPAR, to plasma membrane through depalmitoylation of GRIA1. Highest expression in Brain Cerebellum (79.3 TPM) and Brain Cerebellar Hemisphere (70.2 TPM).

Hereditary spastic paraplegia 73 is associated with mutations in the CPT1C gene on chromosome 19.

The CPT1C protein participates in CPT1B transfers PALM to CAR and CPT1A transfers PALM to CAR pathways.

CPT1C is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for CPT1C is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 73 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 4 very common features, 9 common 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 73.

9 publications have been identified in PubMed for hereditary spastic paraplegia 73. Research spans Case Report / Case Series (44%), Diagnostic / Biomarker (22%), and Epidemiology / Natural History (22%).

Recent Publications

Jeyakumar H (2025). [PMID: 40598191](https://pubmed.ncbi.nlm.nih.gov/40598191/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Brooks AK (2025). [PMID: 39737739](https://pubmed.ncbi.nlm.nih.gov/39737739/). *Annals of clinical and translational neurology*. [Case Report / Case Series]
Bregant E (2025). [PMID: 40208338](https://pubmed.ncbi.nlm.nih.gov/40208338/). *Human genetics*. [Epidemiology / Natural History]
Borgione E (2025). [PMID: 40562130](https://pubmed.ncbi.nlm.nih.gov/40562130/). *Gene*. [Case Report / Case Series]
Fontaine F (2025). [PMID: 40579432](https://pubmed.ncbi.nlm.nih.gov/40579432/). *European journal of human genetics : EJHG*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616282

Orphanet

European rare disease database

Orphanet:444099

GARD

Genetic and Rare Diseases Info Center

GARD:17763

Questions for Your Care Team

→Should I pursue genetic testing for CPT1C, and what would the results mean for my family?
→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 73

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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