1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1055/s-2008-1071515" target="_blank" rel="noreferrer">http://doi.org/10.1055/s-2008-1071515</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Disorders of movement in Leigh syndrome Publisher An entity responsible for making the resource available Neuropediatrics Date A point or period of time associated with an event in the lifecycle of the resource 1993 Subject The topic of the resource Child; Female; Humans; Male; Magnetic Resonance Imaging; Preschool; Q3 Literature Search; retrospective studies; Basal Ganglia Diseases/complications/enzymology/physiopathology; Basal Ganglia/enzymology/physiopathology; Brain/enzymology/physiopathology/radiography; Dystonia/complications/diagnosis/physiopathology; Electron Transport Complex IV/metabolism; Enzyme Repression; Leigh Disease/complications/diagnosis/physiopathology; Mental Disorders/etiology; Mitochondrial Encephalomyopathies/complications/enzymology; Movement Disorders/complications/diagnosis/physiopathology Creator An entity primarily responsible for making the resource Macaya A; Munell F; Burke RE; De Vivo DC Description An account of the resource Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4, tremor in 2, chorea in 2, hypokinesia in 2, myoclonus in 1, and tics in 1. Dystonia was most commonly multifocal at onset and showed progression in six patients. In half of the cases an enzymatic defect was detected, most commonly cytochrome C oxidase. The neuroradiologic findings showed prominent basal ganglia lesions in 20/21 patients. Putamen, caudate, substantia nigra and globus pallidus were involved in this order of frequency. This experience was reflected in a literature review encompassing 284 cases of LS. However, only 26.4% had MD. Eleven patients, including one of our cases, presented as the primary torsion dystonia phenotype. There are clinical and pathological similarities between LS and other metabolic diseases affecting the central nervous system. The enhanced vulnerability of the nervous system to metabolic stress and the resemblance in the distribution of the pathology of these diverse conditions suggests a common pathogenetic mechanism. An excitotoxin-mediated mechanism is favored, one which might account for the frequent involvement of the basal ganglia in LS. 1993 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1055/s-2008-1071515" target="_blank" rel="noreferrer">10.1055/s-2008-1071515</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 1993 Backlog Basal Ganglia Diseases/complications/enzymology/physiopathology Basal Ganglia/enzymology/physiopathology Brain/enzymology/physiopathology/radiography Burke RE Child De Vivo DC Dystonia/complications/diagnosis/physiopathology Electron Transport Complex IV/metabolism Enzyme Repression Female Humans Journal Article Leigh Disease/complications/diagnosis/physiopathology Macaya A Magnetic Resonance Imaging Male Mental Disorders/etiology Mitochondrial Encephalomyopathies/complications/enzymology Movement Disorders/complications/diagnosis/physiopathology Munell F Neuropediatrics Preschool Q3 Scoping Review Results Retrospective Studies