Purpose of review: This review will discuss the latest genetic and pathophysiological spectrum of paroxysmal movement disorders and emerging therapeutic strategies.
Recent findings: Paroxysmal movement disorders comprise a heterogenous group of rare movement disorders characterized by intermittent episodes of spontaneous or triggered attacks of hyperkinetic movement disorders. Genetic spectrum has evolved offering new insights in the pathophysiological mechanisms of known genes as PRRT2 and new ones as TMEM151A . Also, SCA 27B -related adult-onset cerebellar ataxia has emerged as a new treatable cause of episodic ataxia.
Summary: Exploring new pathophysiological associations can offer diagnostic precision and development of new therapeutic directions.
Keywords: episodic ataxia; parosymal kinesigenic dyskinesia; paroxysmal exercise-induced dyskinesia; paroxysmal nonkinesigenic dyskinesia.
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