The syndrome caused by mutations in the COQ4 gene is a multisystem disorder characterized by a broad clinical spectrum, ranging from a severe neonatal encephalomyopathy with heart involvement and epilepsy to a childhood- or adult-onset, slowly progressive disorder with cerebellar ataxia, spasticity and sometimes stroke-like episodes.
Marc Engelen, MD, PhD, Amsterdam Leukodystrophy Center, Department of (Pediatric) Neurology, Amsterdam UMC, The Netherlands, m.engelen@amsterdamumc.nl