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Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review

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dc.contributor.author Rossi, Malco Damián
dc.contributor.author Hamed, Moath
dc.contributor.author Rodríguez Antigüedad, Jon
dc.contributor.author Cornejo Olivas, Mario
dc.contributor.author Breza, Marianthi
dc.contributor.author Lohmann, Katja
dc.contributor.author Klein, Christine
dc.contributor.author Rajalingam, Rajasumi
dc.contributor.author Marras, Connie
dc.contributor.author Van de Warrenburg, Bart
dc.date.accessioned 2022-11-18T13:18:42Z
dc.date.available 2022-11-18T13:18:42Z
dc.date.issued 2022-11-14
dc.identifier.citation Rossi MD, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP. Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review. Mov Disord. 2022 Nov 14. doi: 10.1002/mds.29278. Epub ahead of print. es_ES
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/718
dc.identifier.uri https://doi.org/10.1002/mds.29278
dc.description.abstract Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD) with expanded repeats have cast doubt on the established cutoff values of the expansions and the phenotypic spectrum of this disorder. The objective of this systematic review was to explore the genotype-phenotype relationships for repeat expansions in TBP to delineate the ATX-TBP phenotype and reevaluate the pathological range of repeat expansions. The International Parkinson and Movement Disorder Society Genetic Mutation Database (MDSGene) standardized data extraction protocol was followed. Clinically affected carriers of reported ATX-TBP expansions were included. Publications that contained repeat sizes in screened cohorts of patients with PD and/or healthy individuals were included for a separate evaluation of cutoff values. Phenotypic and genotypic data for 346 ATX-TBP patients were curated. Overall, 97.7% of the patients had ≥41 repeats, while 99.6% of patients with PD and 99.9% of healthy individuals had ≤42 repeats, with a gray zone of reduced penetrance between 41 and 45 repeats. Pure parkinsonism was more common in ATX-TBP patients with 41 to 45 repeats than in the group with ≥46 repeats, which conversely more often presented with a complex phenotype with mixed movement disorders. An updated genotype-phenotype assessment for ATX-TBP is provided, and new repeat expansion cutoff values of reduced penetrance (41-45 expanded repeats) and full penetrance (46-66 expanded repeats) are proposed. These adjusted cutoff values will have diagnostic and counseling implications and may guide future clinical trial protocol. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. es_ES
dc.language.iso eng es_ES
dc.publisher Wiley-Liss es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Ataxias Espinocerebelosas es_ES
dc.subject Spinocerebellar Ataxias es_ES
dc.subject Trastornos del Movimiento es_ES
dc.subject Movement Disorders es_ES
dc.subject Genética es_ES
dc.subject Genetics es_ES
dc.title Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:ar-repo/semantics/artículo 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: Hamed, Moath. New York-Presbyterian Brooklyn Methodist Hospital; Estados Unidos.
dc.description.fil Fil: Rodríguez Antigüedad, Jon. Sant Pau Hospital. Neurology Department. Movement Disorders Unit; España. Institut d'Investigacions Biomediques-Sant Pau; España.
dc.description.fil Fil: Cornejo Olivas, Mario. Instituto Nacional de Ciencias Neurológicas. Neurogenetics Research Center; Perú. Universidad Científica del Sur. Carrera de Medicina; Perú.
dc.description.fil Fil: Breza, Marianthi. NNational and Kapodistrian University of Athens. Eginition Hospital. School of Medicine. Department of Neurology; Grecia. The National Hospital for Neurology and Neurosurgery. UCL Queen Square Institute of Neurology. Department of Neuromuscular Disease; Inglaterra.
dc.description.fil Fil: Lohmann, Katja. University of Lübeck. Institute of Neurogenetics; Alemania.
dc.description.fil Fil: Klein, Christine. University of Lübeck. Institute of Neurogenetics; Alemania.
dc.description.fil Fil: Rajalingam, Rajasumi. Toronto Western Hospital. Morton and Gloria Shulman Movement Disorders Clinic. Edmond J. Safra Program in Parkinson's Disease; Canadá.
dc.description.fil Fil: Marras, Connie. Toronto Western Hospital. Morton and Gloria Shulman Movement Disorders Clinic. Edmond J. Safra Program in Parkinson's Disease; Canadá.
dc.description.fil Fil: Van de Warrenburg, Bart. Radboud University Medical Center. Donders Institute for Brain, Cognition & Behaviour. Department of Neurology; Países Bajos.
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva York
dc.relation.ispartofTITLE Movement disorders : official journal of the Movement Disorder Society
dc.relation.ispartofISSN 1531-8257
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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