Article

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.
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Langue : ANGLAIS