Literature DB >> 27567459

Paroxysmal movement disorders: An update.

A Méneret1, E Roze2.   

Abstract

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.
Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Ataxia; Dyskinesia; Episodic; Genetics; Movement disorders; Paroxysmal

Mesh:

Substances:

Year:  2016        PMID: 27567459     DOI: 10.1016/j.neurol.2016.07.005

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  17 in total

1.  GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?

Authors:  Aurélie Méneret; Emmanuel Roze
Journal:  Mov Disord Clin Pract       Date:  2019-03-28

Review 2.  Paroxysmal Movement Disorders: Recent Advances.

Authors:  Zheyu Xu; Che-Kang Lim; Louis C S Tan; Eng-King Tan
Journal:  Curr Neurol Neurosci Rep       Date:  2019-06-11       Impact factor: 5.081

3.  Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.

Authors:  Jennifer Friedman; Annette Feigenbaum; Nathaniel Chuang; Jennifer Silhavy; Joseph G Gleeson
Journal:  Neurology       Date:  2017-11-01       Impact factor: 9.910

4.  Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

Authors:  Aurélie Méneret; Emmanuel Roze; Jean-Baptiste Maranci; Pauline Dodet; Diane Doummar; Florence Riant; Christine Tranchant; Valérie Fraix; Mathieu Anheim; Asya Ekmen; Eavan McGovern; Marie Vidailhet; Isabelle Arnulf; Smaranda Leu-Semenescu
Journal:  J Clin Sleep Med       Date:  2019-07-15       Impact factor: 4.062

Review 5.  Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.

Authors:  Federica Rachele Danti; Federica Invernizzi; Isabella Moroni; Barbara Garavaglia; Nardo Nardocci; Giovanna Zorzi
Journal:  Front Neurol       Date:  2021-06-01       Impact factor: 4.003

Review 6.  Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

Authors:  Kelsey Paulhus; Lauren Ammerman; Edward Glasscock
Journal:  Int J Mol Sci       Date:  2020-04-17       Impact factor: 5.923

7.  Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).

Authors:  Jasmin Nessler; Petra Hug; Paul J J Mandigers; Peter A J Leegwater; Vidhya Jagannathan; Anibh M Das; Marco Rosati; Kaspar Matiasek; Adrian C Sewell; Marion Kornberg; Marina Hoffmann; Petra Wolf; Andrea Fischer; Andrea Tipold; Tosso Leeb
Journal:  Genes (Basel)       Date:  2020-07-09       Impact factor: 4.096

Review 8.  Paroxysmal Movement Disorders.

Authors:  Susan Harvey; Mary D King; Kathleen M Gorman
Journal:  Front Neurol       Date:  2021-06-11       Impact factor: 4.003

9.  Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.

Authors:  Dylan J Calame; Jianfeng Xiao; Mohammad Moshahid Khan; T J Hollingsworth; Yi Xue; Abigail L Person; Mark S LeDoux
Journal:  Neuroscience       Date:  2020-09-04       Impact factor: 3.708

10.  A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.

Authors:  Elodie Hainque; Samantha Caillet; Sandrine Leroy; Constance Flamand-Roze; Isaac Adanyeguh; Fanny Charbonnier-Beaupel; Maryvonne Retail; Benjamin Le Toullec; Mariana Atencio; Sophie Rivaud-Péchoux; Vanessa Brochard; Florence Habarou; Chris Ottolenghi; Florence Cormier; Aurélie Méneret; Marta Ruiz; Mohamed Doulazmi; Anne Roubergue; Jean-Christophe Corvol; Marie Vidailhet; Fanny Mochel; Emmanuel Roze
Journal:  Orphanet J Rare Dis       Date:  2017-10-02       Impact factor: 4.123

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.