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spastic paraplegia 82, autosomal recessive (SPG82) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 82, autosomal recessive

MONDO:0032906

Also known as:SPG82autosomal recessive spastic paraplegia type 82

Overview

Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.

GeneticsAutosomal recessive · PCYT2 (chr 17)

OnsetCHILDHOOD, INFANTILE

ResearchLimited published research (3 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: Brain shrinkage (cerebral atrophy), Delayed ability to walk, Loss of previously acquired skills (developmental regression), and Babinski sign and others; and very common findings: Bilateral tonic-clonic seizure with generalized onset. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Brain shrinkage (cerebral atrophy), Delayed speech and language development, Loss of previously acquired skills (developmental regression)

Genetic Landscape

PCYT2 function has not been fully characterized.

Spastic paraplegia 82, autosomal recessive is associated with mutations in the PCYT2 gene on chromosome 17.

Diagnosis

Genetic testing for PCYT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic paraplegia 82, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 1 very common feature, 3 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 spastic paraplegia 82, autosomal recessive.

3 publications have been identified in PubMed for spastic paraplegia 82, autosomal recessive. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Kessler C (2026). [PMID: 40961460](https://pubmed.ncbi.nlm.nih.gov/40961460/). *Amyotrophic lateral sclerosis & frontotemporal degeneration*. [Epidemiology / Natural History]
Safka Brozkova D (2026). [PMID: 41749354](https://pubmed.ncbi.nlm.nih.gov/41749354/). *Human genomics*. [Diagnostic / Biomarker]
Dash A (2025). [PMID: 39884309](https://pubmed.ncbi.nlm.nih.gov/39884309/). *Journal of movement disorders*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618770

Orphanet

European rare disease database

Orphanet:631073

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 82, 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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