Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Abstract

Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy. We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes.

Keywords: COQ4 gene defect; Co enzyme Q10 deficiency; Spinocerebellar ataxia.

Fig. 1

On the right side of the figure is the family pedigree. On the left side the MRI scan from patient 2 (top row MRI at the time of the first stroke like episode, bottom row 3 months later). There is a lesion in the left occipital lobe (indicated by the white arrow) with increased signal on FLAIR (A) and low signal on T1-weighted images (B). There is patchy enhancement after gadolinium administration (C) and is abnormal signal intensity on DWI (D) and ADC (E). There is complete normalization on a follow-up scan about 3 months later.