What’s new in April for Neurology features: Myoclonus
HIROSHI SHIBASKAI, MD, PhD
Department of Neurology and Human Brain Research Center, Kyoto University School of Medicine, Kyoto, Japan
MARINA A.J. KONING-TIJSSEN, MD, PhD
Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands
Patients in the epileptic subgroup of cortical myoclonus suffer from progressive action-induced, stimulus-sensitive, multifocal or generalized myoclonus. The epileptic group is largely considered progressive myoclonus epilepsy or progressive myoclonus encephalopathy (PME). Recently, mutations in the Golgi SNAP receptor member 2 (GOSR2) gene were identified as a cause of PME or progressive myoclonic ataxia, previously known as Ramsay Hunt syndrome. All patients have a similar phenotype with progressive cortical reflex myoclonus, ataxia, generalized seizures, preserved cognition, and areflexia.
As seen in Scientific AmericanTM Neurology.