Alternative titles and symbols : SCAR9; Spinocerebellar ataxia, autosomal recessive 9;
Description : Primary coenzyme Q10 deficiency-4 is an autosomal recessive disorder characterized
by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals
develop seizures and have mild mental impairment, indicating variable severity. Oral
coenzyme Q10 supplementation does not result in significant improvement of neurologic
symptoms (summary by Mollet et al., 2008 and Lagier-Tourenne et al., 2008). For a
general phenotypic description and a discussion of genetic heterogeneity of primary
coenzyme Q10 deficiency, see COQ10D1 (607426).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the AARF domain-containing kinase 3 gene (ADCK3, 606980.0001);
Laboratory abnormalities : Increased serum and CSF lactate;