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Myoclonus-Ataxia Syndromes: A Diagnostic Approach

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dc.contributor.author Rossi, Malco Damián
dc.contributor.author Van der Veen, Sterre
dc.contributor.author Merello, Marcelo
dc.contributor.author Tijssen, Marina A.J.
dc.contributor.author Van de Warrenburg, Bart
dc.date.accessioned 2021-05-06T11:01:51Z
dc.date.available 2021-05-06T11:01:51Z
dc.date.issued 2020-11-03
dc.identifier.citation Rossi, M.D., Van der Veen, S., Merello, M., Tijssen, M.A., Van de Warrenburg, B., 2020b. Myoclonus-Ataxia syndromes: a diagnostic approach. Movement Disorders Clinical Practice. Nov 3;8(1):9-24. doi: 10.1002/mdc3.13106. es_ES
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/461
dc.identifier.uri https://doi.org/10.1002/mdc3.13106
dc.description.abstract Background: A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis. Objectives: To review the causes of MAS and to propose a diagnostic algorithm. Methods: A comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia. Results: A total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas. Conclusions: Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders. es_ES
dc.language.iso eng es_ES
dc.publisher Wiley es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Ataxia es_ES
dc.subject Myoclonus es_ES
dc.subject Mioclonía es_ES
dc.subject Diagnosis es_ES
dc.subject Diagnóstico es_ES
dc.title Myoclonus-Ataxia Syndromes: A Diagnostic Approach es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Rossi, Malco Damián. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.description.fil Fil: Van der Veen, Sterre. Universidad Católica Argentina; Argentina. University Medical Center Groningen. Department of Neurology University of Groningen; Países Bajos.
dc.description.fil Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Católica Argentina; Argentina.
dc.description.fil Fil: Tijssen, Marina A.J. University of Groningen. University Medical Center Groningen. Department of Neurology; Países Bajos. University Medical Center Groningen. Expertise Center Movement Disorders; Países Bajos.
dc.description.fil Fil: Van de Warrenburg, Bart. Radboud University Nijmegen Medical Centre. Department of Neurology. Donders Institute for Brain, Cognition & Behaviour; Países Bajos.
dc.relation.ispartofVOLUME 8
dc.relation.ispartofNUMBER 1
dc.relation.ispartofPAGINATION 9-24.
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva York
dc.relation.ispartofTITLE Movement disorders clinical practice
dc.relation.ispartofISSN 2330-1619
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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