title: Paroxysmal movement disorders: An update.
abstract: Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by attacks of dystonic and/or choreic movements, and episodic ataxia, defined by attacks of cerebellar ataxia. They may be primary (familial or sporadic) or secondary to an underlying cause. They can be classified according to their phenomenology (kinesigenic, non-kinesigenic or exercise-induced) or their genetic cause. The main genes involved in primary paroxysmal movement disorders include PRRT2, PNKD, SLC2A1, ATP1A3, GCH1, PARK2, ADCY5, CACNA1A and KCNA1. Many cases remain genetically undiagnosed, thereby suggesting that additional culprit genes remain to be discovered. The present report is a general overview that aims to help clinicians diagnose and treat patients with paroxysmal movement disorders.
authors: Inserm U 1127, CNRS UMR 7225, Sorbonne University Group, UPMC University Paris 06 UMR S 1127, Brain and Spine Institute, ICM, 75013 Paris, France; AP-HP, Pitié-Salpêtrière Hospital, Department of Neurology, 75013 Paris, France.
authors: A
authors: A
authors: Méneret
authors: Inserm U 1127, CNRS UMR 7225, Sorbonne University Group, UPMC University Paris 06 UMR S 1127, Brain and Spine Institute, ICM, 75013 Paris, France; AP-HP, Pitié-Salpêtrière Hospital, Department of Neurology, 75013 Paris, France. Electronic address: flamand.roze.75012@gmail.com.
authors: E
authors: E
authors: Roze
mesh_terms: D002819:Chorea / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D003937:Diagnosis, Differential; D003943:Diagnostic Techniques, Neurological; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009626:Terminology as Topic
chemical_list: D009419:Nerve Tissue Proteins
keywords: Ataxia; Dyskinesia; Episodic; Genetics; Movement disorders; Paroxysmal