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

spastic paraplegia-neuropathy-poikiloderma syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia-neuropathy-poikiloderma syndrome

MONDO:0008442

Also known as:Antinolo-Nieto-Borrego syndromefamilial spastic paraplegia with neuropathy and poikilodermaspastic paraplegia neuropathy poikiloderma

Overview

Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.

GeneticsAutosomal dominant

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: Distal amyotrophy, Poikiloderma, Spastic gait, and Basal lamina onion bulb formation and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Spastic paraplegia

Explore clinical features

Prognosis

Phenotype severity distribution: 8 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-neuropathy-poikiloderma syndrome.

300 publications have been identified in PubMed for spastic paraplegia-neuropathy-poikiloderma syndrome. Kisho has analyzed 37 by research type. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (22%), and Basic Science / Preclinical (22%).

Research Type	Count	% of Total
Research summaries	16	43%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182815

Orphanet

European rare disease database

Orphanet:2821

GARD

Genetic and Rare Diseases Info Center

GARD:4921

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

spastic paraplegia-neuropathy-poikiloderma syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications