Features include always present findings: Ataxia, Nystagmus, Mental deterioration, and Overactive reflexes (hyperreflexia) and others; and very common findings: Peripheral axonal neuropathy, Shrinkage of the cerebellum (cerebellar atrophy), and Babinski sign. 28 total HPO annotations.

ATP13A2 encodes ATPase cation transporting 13A2 (1,180 aa). ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine. Also stimulates cellular uptake of polyamines and protects against polyamine toxicity. Highest expression in Brain Cortex (117.5 TPM) and Brain Cerebellum (116.4 TPM).

Autosomal recessive spastic paraplegia type 78 is associated with mutations in the ATP13A2 gene on chromosome 1.

The ATP13A2 protein participates in ATP13A2 transports cations from cytosol to lysosomal lumen and ATP13A4,5 transport divalent ions from extracellular region to cytosol pathways.

ATP13A2 is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.0.

Genetic testing for ATP13A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive spastic paraplegia type 78 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 3 very common features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal recessive spastic paraplegia type 78.

10 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 78. Research spans Case Report / Case Series (30%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).