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spastic paraplegia 87, autosomal recessive (SPG87) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 87, autosomal recessive

MONDO:0031019

Also known as:SPG87autosomal recessive spastic paraplegia type 87

Overview

GeneticsAutosomal recessive · TMEM63C (chr 14)

ResearchLimited published research (2 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: Mild intellectual disability, Babinski sign, Lower limb hyperreflexia, and Spastic gait and others; and common findings: Excessive inward curve of the lower back (lumbar hyperlordosis). 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Mild intellectual disability, Delayed speech and language development, Babinski sign

Genetic Landscape

TMEM63C function has not been fully characterized.

Spastic paraplegia 87, autosomal recessive is associated with mutations in the TMEM63C gene on chromosome 14.

Diagnosis

Genetic testing for TMEM63C is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 1 common feature.

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 spastic paraplegia 87, autosomal recessive.

2 publications have been identified in PubMed for spastic paraplegia 87, autosomal recessive. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Sardesai AV (2025). [PMID: 40729784](https://pubmed.ncbi.nlm.nih.gov/40729784/). *Pediatric neurology*. [Epidemiology / Natural History]
Cioffi E (2024). [PMID: 38427163](https://pubmed.ncbi.nlm.nih.gov/38427163/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619966

Orphanet

European rare disease database

Orphanet:631088

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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spastic paraplegia 87, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

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