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hereditary spastic paraplegia 72 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 72

MONDO:0014282

Also known as:REEP2 pure hereditary spastic paraplegiaSPG72autosomal spastic paraplegia type 72

Overview

Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.

GeneticsAutosomal recessive, Autosomal dominant · REEP2 (chr 5)

ResearchLimited published research (9 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 always present findings: Babinski sign and Lower limb hyperreflexia; and very common findings: Spastic gait, Spasticity, and Muscle stiffness (rigidity). 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Babinski sign, Lower limb hyperreflexia, Dysarthria

Genetic Landscape

REEP2 function has not been fully characterized.

Hereditary spastic paraplegia 72 is associated with mutations in the REEP2 gene on chromosome 5.

Diagnosis

Genetic testing for REEP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 72 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 4 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 72.

10 publications have been identified in PubMed for hereditary spastic paraplegia 72. Research spans Epidemiology / Natural History (33%), Diagnostic / Biomarker (22%), and Basic Science / Preclinical (22%).

Recent Publications

Schmidt HJD (2026). [PMID: 41199121](https://pubmed.ncbi.nlm.nih.gov/41199121/). *Ann Clin Transl Neurol*. [Epidemiology / Natural History]
Di Paola M (2026). [PMID: 41672147](https://pubmed.ncbi.nlm.nih.gov/41672147/). *Mol Cell Proteomics*. [Basic Science / Preclinical]
Doronzio PN (2025). [PMID: 40498122](https://pubmed.ncbi.nlm.nih.gov/40498122/). *J Neurol*. [Epidemiology / Natural History]
Pellerin D (2025). [PMID: 39378335](https://pubmed.ncbi.nlm.nih.gov/39378335/). *Brain*. [Basic Science / Preclinical]
Lallemant-Dudek P (2025). [PMID: 39704400](https://pubmed.ncbi.nlm.nih.gov/39704400/). *Eur J Neurol*. [Epidemiology / Natural History]

Data assembled from 6 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:615625

Orphanet

European rare disease database

Orphanet:401849

GARD

Genetic and Rare Diseases Info Center

GARD:17660

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?

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hereditary spastic paraplegia 72

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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