Unravelling of the paroxysmal dyskinesias.

Clicks: 154
ID: 71958
2019
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Ranked #15 of 15 articles by views in journal of neurology, neurosurgery, and psychiatry

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Abstract
Paroxysmal dyskinesias (PxD) refer to a rare group of clinically and genetically heterogeneous disorders presenting with recurrent attacks of abnormal movements, typically dystonia, chorea or a combination thereof, without loss of consciousness. Classically, PxD have been categorised according to their triggers and duration of the attacks, but increasing evidence suggests that there is a certain degree of clinical and genetic overlap and challenges the concept that one phenotype is attributable to one single aetiology. Here we review the increasing spectrum of genetic conditions, as well as of other non-genetic disorders, that might present with PxD, provide criteria for case definition and propose a diagnostic workup to reach a definitive diagnosis, on which treatment is heavily dependent.
Reference Key
erro2019unravellingjournal Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Erro, Roberto;Bhatia, Kailash P;
Journal journal of neurology, neurosurgery, and psychiatry
Year 2019
DOI
10.1136/jnnp-2018-318932
URL
Keywords
pkd ped glut1. pnkd prrt2

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