Literature DB >> 29735120

Movement Disorders and Neurometabolic Diseases.

Celanie K Christensen1, Laurence Walsh2.   

Abstract

Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities. Dietary modifications, medications, and increasingly specific therapy can improve outcomes in children with movement disorders caused by IEM. Recognition and characterization of secondary movement disorders in children facilitate their management and diagnosis, and possible treatment of an underlying IEM.
Copyright © 2018 Elsevier Inc. All rights reserved.

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Year:  2018        PMID: 29735120     DOI: 10.1016/j.spen.2018.02.003

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  7 in total

1.  Juvenile Dystonia-Parkinsonism Due to DNAJC6 Mutation.

Authors:  David Garza-Brambila; Claudia Nallely Esparza-Hernández; Jorge Ramirez-Zenteno; Daniel Martinez-Ramirez
Journal:  Mov Disord Clin Pract       Date:  2021-09-03

2.  Movement Disorders in Inherited Metabolic Diseases in Children.

Authors:  Arushi Gahlot Saini; Suvasini Sharma
Journal:  Ann Indian Acad Neurol       Date:  2020-05-09       Impact factor: 1.383

Review 3.  Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Authors:  Filipa Bastos; Mathieu Quinodoz; Marie-Claude Addor; Beryl Royer-Bertrand; Heidi Fodstad; Carlo Rivolta; Claudia Poloni; Andrea Superti-Furga; Eliane Roulet-Perez; Sebastien Lebon
Journal:  BMC Neurol       Date:  2020-01-13       Impact factor: 2.474

Review 4.  A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Authors:  Juan Darío Ortigoza-Escobar
Journal:  Front Neurol       Date:  2020-11-13       Impact factor: 4.003

5.  Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

Authors:  Joseph Farris; Md Suhail Alam; Arpitha Mysore Rajashekara; Kasturi Haldar
Journal:  PLoS Genet       Date:  2021-02-01       Impact factor: 5.917

Review 6.  Review of Hereditary and Acquired Rare Choreas.

Authors:  Daniel Martinez-Ramirez; Ruth H Walker; Mayela Rodríguez-Violante; Emilia M Gatto
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-08-06

7.  Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Authors:  V Montano; D Orsucci; V Carelli; C La Morgia; M L Valentino; C Lamperti; S Marchet; O Musumeci; A Toscano; G Primiano; F M Santorelli; C Ticci; M Filosto; A Rubegni; T Mongini; P Tonin; S Servidei; R Ceravolo; G Siciliano; Michelangelo Mancuso
Journal:  J Neurol       Date:  2021-07-14       Impact factor: 4.849

  7 in total

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