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maternally-inherited spastic paraplegia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maternally-inherited spastic paraplegia

MONDO:0017917

Also known as:MT-ATP6-related mitochondrial spastic paraplegiamaternally-inherited SPG

Overview

A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

ResearchLimited published research (6 articles)

Prognosis

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 maternally-inherited spastic paraplegia.

6 publications have been identified in PubMed for maternally-inherited spastic paraplegia. Research spans Case Report / Case Series (83%) and Basic Science / Preclinical (17%).

Recent Publications

Trilla P (2026). [PMID: 41758270](https://pubmed.ncbi.nlm.nih.gov/41758270/). *Cell Mol Neurobiol*. [Case Report / Case Series]
Lessard LE (2025). [PMID: 41222985](https://pubmed.ncbi.nlm.nih.gov/41222985/). *J Neuromuscul Dis*. [Case Report / Case Series]
Chirasani VR (2025). [PMID: 41176091](https://pubmed.ncbi.nlm.nih.gov/41176091/). *J Biol Chem*. [Basic Science / Preclinical]
Manzke P (2025). [PMID: 39762264](https://pubmed.ncbi.nlm.nih.gov/39762264/). *Hum Genome Var*. [Case Report / Case Series]
Sbragia E (2024). [PMID: 38883204](https://pubmed.ncbi.nlm.nih.gov/38883204/). *eNeurologicalSci*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:320360

GARD

Genetic and Rare Diseases Info Center

GARD:21433

Questions for Your Care Team

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maternally-inherited spastic paraplegia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team