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

Annet M Bosch; Erik-Jan Kamsteeg; Richard J Rodenburg; Arend W van Deutekom; Dennis R Buis; Marc Engelen; Jan-Maarten Cobben

doi:10.1016/j.ymgmr.2018.09.002

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

Mol Genet Metab Rep. 2018 Sep 13:17:19-21. doi: 10.1016/j.ymgmr.2018.09.002. eCollection 2018 Dec.

Authors

Annet M Bosch¹, Erik-Jan Kamsteeg², Richard J Rodenburg³, Arend W van Deutekom⁴, Dennis R Buis⁵, Marc Engelen⁶, Jan-Maarten Cobben⁷

Affiliations

¹ Department of Pediatrics, Division of Metabolic Disorders, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
² Department of Human Genetics Radboud University Medical Center, Nijmegen, the Netherlands.
³ Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.
⁴ Department of Pediatric Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
⁵ Department of Neurosurgery, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
⁶ Department of Pediatric Neurology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
⁷ Department of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.

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.

Publication types

Case Reports