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autosomal recessive spastic paraplegia type 60 (SPG60) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 60

MONDO:0018417

Also known as:SPG60

Overview

ResearchLimited published research (6 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: Nystagmus, Mild intellectual disability, Spastic paraplegia, and Lower limb spasticity and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Mild intellectual disability, Spastic paraplegia, Lower limb spasticity

Diagnosis

Biomarker and diagnostic research for autosomal recessive spastic paraplegia type 60 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 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 autosomal recessive spastic paraplegia type 60.

6 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 60. Research spans Basic Science / Preclinical (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

Kessler C (2026). [PMID: 40961460](https://pubmed.ncbi.nlm.nih.gov/40961460/). *Amyotrophic lateral sclerosis & frontotemporal degeneration*. [Epidemiology / Natural History]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Movement disorders : official journal of the Movement Disorder Society*. [Diagnostic / Biomarker]
Bermejo Ramírez R (2025). [PMID: 39762222](https://pubmed.ncbi.nlm.nih.gov/39762222/). *Human genome variation*. [Gene Therapy / Novel Therapeutics]
Baggiani M (2024). [PMID: 39408944](https://pubmed.ncbi.nlm.nih.gov/39408944/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Shafique A (2024). [PMID: 38906889](https://pubmed.ncbi.nlm.nih.gov/38906889/). *Scientific reports*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401800

GARD

Genetic and Rare Diseases Info Center

GARD:21696

Questions for Your Care Team

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autosomal recessive spastic paraplegia type 60

Overview

Clinical Presentation

Diagnosis

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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