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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs) are characterized by transient episodes hyperkin...

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Autores principales: Garone, Giacomo, Capuano, Alessandro, Travaglini, Lorena, Graziola, Federica, Stregapede, Fabrizia, Zanni, Ginevra, Vigevano, Federico, Bertini, Enrico, Nicita, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279391/
https://www.ncbi.nlm.nih.gov/pubmed/32443735
http://dx.doi.org/10.3390/ijms21103603
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author Garone, Giacomo
Capuano, Alessandro
Travaglini, Lorena
Graziola, Federica
Stregapede, Fabrizia
Zanni, Ginevra
Vigevano, Federico
Bertini, Enrico
Nicita, Francesco
author_facet Garone, Giacomo
Capuano, Alessandro
Travaglini, Lorena
Graziola, Federica
Stregapede, Fabrizia
Zanni, Ginevra
Vigevano, Federico
Bertini, Enrico
Nicita, Francesco
author_sort Garone, Giacomo
collection PubMed
description Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs) are characterized by transient episodes hyperkinetic movement disorders, while attacks of cerebellar dysfunction are the hallmark of episodic ataxias (EAs). From an etiological point of view, both primary (genetic) and secondary (acquired) causes of PMDs are known. Recognition and diagnosis of PMDs is based on personal and familial medical history, physical examination, detailed reconstruction of ictal phenomenology, neuroimaging, and genetic analysis. Neurophysiological or laboratory tests are reserved for selected cases. Genetic knowledge of PMDs has been largely incremented by the advent of next generation sequencing (NGS) methodologies. The wide number of genes involved in the pathogenesis of PMDs reflects a high complexity of molecular bases of neurotransmission in cerebellar and basal ganglia circuits. In consideration of the broad genetic and phenotypic heterogeneity, a NGS approach by targeted panel for movement disorders, clinical or whole exome sequencing should be preferred, whenever possible, to a single gene approach, in order to increase diagnostic rate. This review is focused on clinical and genetic features of PMDs with the aim to (1) help clinicians to recognize, diagnose and treat patients with PMDs as well as to (2) provide an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.
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spelling pubmed-72793912020-06-17 Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias Garone, Giacomo Capuano, Alessandro Travaglini, Lorena Graziola, Federica Stregapede, Fabrizia Zanni, Ginevra Vigevano, Federico Bertini, Enrico Nicita, Francesco Int J Mol Sci Review Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs) are characterized by transient episodes hyperkinetic movement disorders, while attacks of cerebellar dysfunction are the hallmark of episodic ataxias (EAs). From an etiological point of view, both primary (genetic) and secondary (acquired) causes of PMDs are known. Recognition and diagnosis of PMDs is based on personal and familial medical history, physical examination, detailed reconstruction of ictal phenomenology, neuroimaging, and genetic analysis. Neurophysiological or laboratory tests are reserved for selected cases. Genetic knowledge of PMDs has been largely incremented by the advent of next generation sequencing (NGS) methodologies. The wide number of genes involved in the pathogenesis of PMDs reflects a high complexity of molecular bases of neurotransmission in cerebellar and basal ganglia circuits. In consideration of the broad genetic and phenotypic heterogeneity, a NGS approach by targeted panel for movement disorders, clinical or whole exome sequencing should be preferred, whenever possible, to a single gene approach, in order to increase diagnostic rate. This review is focused on clinical and genetic features of PMDs with the aim to (1) help clinicians to recognize, diagnose and treat patients with PMDs as well as to (2) provide an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders. MDPI 2020-05-20 /pmc/articles/PMC7279391/ /pubmed/32443735 http://dx.doi.org/10.3390/ijms21103603 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Garone, Giacomo
Capuano, Alessandro
Travaglini, Lorena
Graziola, Federica
Stregapede, Fabrizia
Zanni, Ginevra
Vigevano, Federico
Bertini, Enrico
Nicita, Francesco
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
title Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
title_full Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
title_fullStr Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
title_full_unstemmed Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
title_short Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
title_sort clinical and genetic overview of paroxysmal movement disorders and episodic ataxias
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279391/
https://www.ncbi.nlm.nih.gov/pubmed/32443735
http://dx.doi.org/10.3390/ijms21103603
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