Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive spastic paraplegia type 71 (SPG71) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 71

MONDO:0018423

Also known as:SPG71

Overview

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 common findings: Mild intellectual disability, Global developmental delay, Overactive reflexes (hyperreflexia), and Lower limb spasticity and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Mild intellectual disability, Global developmental delay, Overactive reflexes (hyperreflexia)

Diagnosis

Biomarker and diagnostic research for autosomal recessive spastic paraplegia type 71 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 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 71.

2 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 71. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).

Recent Publications

Salari M (2025). [PMID: 40041249](https://pubmed.ncbi.nlm.nih.gov/40041249/). *Neurol Genet*. [Review / Meta-Analysis]
Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401840

GARD

Genetic and Rare Diseases Info Center

GARD:21701

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

autosomal recessive spastic paraplegia type 71

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

Explore clinical features