Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders
Expert Review of Neurotherapeutics. 2020-11-08; 21(1): 81-97
DOI: 10.1080/14737175.2021.1840978
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1. Expert Rev Neurother. 2021 Jan;21(1):81-97. doi:
10.1080/14737175.2021.1840978. Epub 2020 Nov 8.
Current challenges in the pathophysiology, diagnosis, and treatment of
paroxysmal movement disorders.
Delorme C(1), Giron C(1), Bendetowicz D(1)(2), Méneret A(1)(2), Mariani
LL(1)(2), Roze E(1)(2).
Author information:
(1)Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière , Paris, France.
(2)Inserm U 1127, CNRS UMR 7225- Institut du cerveau (ICM), Sorbonne Université
, Paris, France.
INTRODUCTION: Paroxysmal movement disorders mostly comprise paroxysmal
dyskinesia and episodic ataxia, and can be the consequence of a genetic disorder
or symptomatic of an acquired disease.
AREAS COVERED: In this review, the authors focused on certain hot-topic issues
in the field: the respective contribution of the cerebellum and striatum to the
generation of paroxysmal dyskinesia, the importance of striatal cAMP turnover in
the pathogenesis of paroxysmal dyskinesia, the treatable causes of paroxysmal
movement disorders not to be missed, with a special emphasis on the treatment
strategy to bypass the glucose transport defect in paroxysmal movement disorders
due to GLUT1 deficiency, and functional paroxysmal movement disorders.
EXPERT OPINION: Treatment of genetic causes of paroxysmal movement disorders is
evolving towards precision medicine with targeted gene-specific therapy.
Alteration of the cerebellar output and modulation of the striatal cAMP turnover
offer new perspectives for experimental therapeutics, at least for paroxysmal
movement disorders due to selected causes. Further characterization of
cell-specific molecular pathways or network dysfunctions that are critically
involved in the pathogenesis of paroxysmal movement disorders will likely result
in the identification of new biomarkers and testing of innovative-targeted
therapeutics.
DOI: 10.1080/14737175.2021.1840978
PMID: 33089715 [Indexed for MEDLINE]