Paroxysmal movement disorders: an update on genetics, mechanisms, and emerging therapeutic strategies

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, SCA27B-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.

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Publication Details

Journal
Current Opinion in Neurology
Published
2026-04-07
DOI
https://doi.org/10.1097/wco.0000000000001495
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
0.00
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article

Paroxysmal movement disorders: an update on genetics, mechanisms, and emerging therapeutic strategies

María Stamelou, Maria Makrygianni, Robert Erro
Current Opinion in Neurology
Glycogen Storage Diseases and Myoclonus
article

Paroxysmal movement disorders: an update on genetics, mechanisms, and emerging therapeutic strategies

María Stamelou, Maria Makrygianni, Robert Erro
article en

Abstract

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, SCA27B-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.

Current Opinion in Neurology
University of Salerno (IT), Hygeia Hospital (GR)
Openalex Percentile: Top 30%
Glycogen Storage Diseases and Myoclonus
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