Features include always present findings: Hypertonia, Seizure, Postural instability, and Hoffmann sign and others; and very common findings: Lower limb spasticity and Lower limb hyperreflexia. 21 total HPO annotations.

COQ4 encodes coenzyme Q4 (265 aa). Lyase that catalyzes the C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid into 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis Highest expression in Thyroid (68.3 TPM) and Pituitary (61.1 TPM).

Spastic ataxia 10, autosomal recessive is associated with mutations in the COQ4 gene on chromosome 9.

The COQ4 protein participates in COQ4 decarboxylates MHDB, Unknown enzyme hydroxylates DMPhOH, and Ubiquinol biosynthesis pathways.

COQ4 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for COQ4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic ataxia 10, autosomal recessive has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 2 very common features, 7 common features.

No clinical trials have been registered for spastic ataxia 10, autosomal recessive.

20 publications have been identified in PubMed for spastic ataxia 10, autosomal recessive. Research spans Diagnostic / Biomarker (20%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (15%).