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

hereditary spastic paraplegia 32 (SPG32) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 32

MONDO:0012643

Also known as:SPG32autosomal recessive spastic paraplegia 32autosomal recessive spastic paraplegia type 32

Overview

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.

GeneticsAutosomal recessive

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: Mild intellectual disability, Pes cavus, and Difficulty walking (gait disturbance); and common findings: Babinski sign, Hypoplasia of the corpus callosum, Cerebellar cortical atrophy, and Abnormal pons morphology and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Brain shrinkage (cerebral atrophy), Mild intellectual disability, Difficulty walking (gait disturbance)

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 32 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 10 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 hereditary spastic paraplegia 32.

19 publications have been identified in PubMed for hereditary spastic paraplegia 32. Research spans Case Report / Case Series (37%), Diagnostic / Biomarker (16%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	7	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611252

Orphanet

European rare disease database

Orphanet:171622

GARD

Genetic and Rare Diseases Info Center

GARD:12749

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?

← Back to All Diseases

Kisho

hereditary spastic paraplegia 32

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary spastic paraplegia 32

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications