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hereditary spastic paraplegia 63 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 63

MONDO:0014305

Also known as:AMPD2 autosomal recessive complex spastic paraplegiaSPG63autosomal recessive complex spastic paraplegia caused by mutation in AMPD2

Overview

An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

GeneticsAutosomal recessive · AMPD2 (chr 1)

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: Delayed ability to walk, Difficulty walking (gait disturbance), and Babinski sign; and common findings: Skeletal muscle atrophy, Hypertonia, Clonus, and Hypoplasia of the corpus callosum and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Clonus, Difficulty walking (gait disturbance), Babinski sign

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.

AMPD2 encodes adenosine monophosphate deaminase 2 (825 aa). AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle Highest expression in Pituitary (138.4 TPM) and Brain Nucleus accumbens basal ganglia (73.0 TPM).

Hereditary spastic paraplegia 63 is associated with mutations in the AMPD2 gene on chromosome 1.

The AMPD2 protein participates in AMP + H2O = IMP + NH4+ (AMPD) pathway.

AMPD2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 4.7.

Diagnosis

Genetic testing for AMPD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 11 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 63.

10 publications have been identified in PubMed for hereditary spastic paraplegia 63. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (30%), and Other (10%).

Research Type	Count	% of Total
Disease patterns and progression	5	50%

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:615686

Orphanet

European rare disease database

Orphanet:401805

GARD

Genetic and Rare Diseases Info Center

GARD:17658

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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Kisho

hereditary spastic paraplegia 63

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 63

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