Features include always present findings: Dysarthria, Gait ataxia, and Damage to the optic nerve (optic atrophy); and very common findings: Babinski sign and Hyperactive patellar reflex. 15 total HPO annotations.

MTPAP encodes mitochondrial poly(A) polymerase (582 aa). Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Highest expression in Testis (25.1 TPM) and Cells EBV-transformed lymphocytes (11.8 TPM).

Spastic ataxia 4 is associated with mutations in the MTPAP gene on chromosome 10.

MTPAP is classified as a druggable target (Enzyme category) with score 0.0.

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

Biomarker and diagnostic research for spastic ataxia 4 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 2 very common features, 6 common features.

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

27 publications have been identified in PubMed for spastic ataxia 4. Research spans Basic Science / Preclinical (22%), Case Report / Case Series (19%), and Epidemiology / Natural History (19%).