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autosomal recessive spastic paraplegia type 66 (SPG66) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 66

MONDO:0018418

Also known as:SPG66

Overview

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 common findings: Intellectual disability, Areflexia, Chronic sensorineural polyneuropathy, and Cerebellar hypoplasia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Intellectual disability, Chronic sensorineural polyneuropathy, Lower limb spasticity

Prognosis

Phenotype severity distribution: 14 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 autosomal recessive spastic paraplegia type 66.

3 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 66. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Sırrı B (2026). [PMID: 41524140](https://pubmed.ncbi.nlm.nih.gov/41524140/). *Physiother Theory Pract*. [Case Report / Case Series]
Bhopatkar SB (2025). [PMID: 40019011](https://pubmed.ncbi.nlm.nih.gov/40019011/). *J Investig Med High Impact Case Rep*. [Case Report / Case Series]
Ibrahim AA (2024). [PMID: 38859620](https://pubmed.ncbi.nlm.nih.gov/38859620/). *Eur J Neurol*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401815

GARD

Genetic and Rare Diseases Info Center

GARD:21697

Questions for Your Care Team

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autosomal recessive spastic paraplegia type 66

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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