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hereditary spastic paraplegia 31 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 31

MONDO:0012453

Also known as:REEP1 hereditary spastic paraplegiaSPG31autosomal dominant spastic paraplegia 31

Overview

A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

GeneticsAutosomal dominant · REEP1 (chr 2)

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: Babinski sign and Lower limb muscle weakness; and very common findings: Spastic gait, Brisk reflexes, and Proximal lower limb muscle weakness. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Difficulty swallowing (dysphagia), Babinski sign, Dysarthria

Genetic Landscape

REEP1 function has not been fully characterized.

Hereditary spastic paraplegia 31 is associated with mutations in the REEP1 gene on chromosome 2.

Diagnosis

Genetic testing for REEP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 31 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 10 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 31.

24 publications have been identified in PubMed for hereditary spastic paraplegia 31. Research spans Epidemiology / Natural History (38%), Review / Meta-Analysis (21%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Disease patterns and progression	9	38%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610250

Orphanet

European rare disease database

Orphanet:101011

GARD

Genetic and Rare Diseases Info Center

GARD:10817

Questions for Your Care Team

→Should I pursue genetic testing for REEP1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hereditary spastic paraplegia 31

Overview

Clinical Presentation

Genetic Landscape

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 31

Overview

Clinical Presentation

Genetic Landscape

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