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hereditary spastic paraplegia 75 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 75

MONDO:0014729

Also known as:MAG hereditary spastic paraplegiaSPG75autosomal recessive spastic paraplegia 75

Overview

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

GeneticsAutosomal recessive · MAG (chr 19)

OnsetNEONATAL, ADULT

ResearchLimited published research (8 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: Astigmatism, Spastic dysarthria, Hypermetropia, and Dysmetria and others; and common findings: Loss of ambulation and Glaucoma. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Spastic dysarthria, Spastic gait, Difficulty with thinking and memory (cognitive impairment)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MAG encodes myelin associated glycoprotein (626 aa). Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2. Highest expression in Brain Spinal cord cervical c-1 (839.0 TPM) and Brain Substantia nigra (181.8 TPM).

Hereditary spastic paraplegia 75 is associated with mutations in the MAG gene on chromosome 19.

MAG is classified as a druggable target (Druggable Genome category) with score 17.4.

Diagnosis

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

Biomarker and diagnostic research for hereditary spastic paraplegia 75 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 always present features, 2 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 75.

9 publications have been identified in PubMed for hereditary spastic paraplegia 75. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Koles K (2026). [PMID: 41708000](https://pubmed.ncbi.nlm.nih.gov/41708000/). *J Biol Chem*. [Review / Meta-Analysis]
Ma A (2025). [PMID: 40272610](https://pubmed.ncbi.nlm.nih.gov/40272610/). *J Mol Neurosci*. [Basic Science / Preclinical]
Alghamdi M (2025). [PMID: 40199965](https://pubmed.ncbi.nlm.nih.gov/40199965/). *J Hum Genet*. [Basic Science / Preclinical]
Miroglio R (2025). [PMID: 41180955](https://pubmed.ncbi.nlm.nih.gov/41180955/). *Brain Commun*. [Diagnostic / Biomarker]
Kavishwar M (2024). [PMID: 39689926](https://pubmed.ncbi.nlm.nih.gov/39689926/). *BMJ Case Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616680

Orphanet

European rare disease database

Orphanet:459056

GARD

Genetic and Rare Diseases Info Center

GARD:17813

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 75

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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