Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series

Background: The NKX2-1-related disorders (NKX2-1-RD) is a rare disorder characterized by choreiform movements along with respiratory and endocrine abnormalities. The European Reference Network of Rare Neurological Disorders funded by the European Commission conducted a systematic review to assess dr...

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Autores: Nou Fontanet, Laia, Martín Gómez, Carmen, Isabel Gómez, Rebeca, Bachoud Lévi, Anne Catherine, Zorzi, Giovanna, Capuano, Alessandro, Blasco Amaro, Juan Antonio, Ortigoza Escobar, Juan Darío
Formato: artículo
Fecha de publicación:2023
País:España
Recursos:Universidad de Huelva (UHU)
Repositorio:Arias Montano. Repositorio Institucional de la Universidad de Huelva
Idioma:inglés
OAI Identifier:oai:ariasmontano.uhu.es:10272/23291
Acesso em linha:https://hdl.handle.net/10272/23291
Access Level:acceso abierto
Palavra-chave:Chorea
Clinical guideline
Drug therapy
NKX2-1
Systematic review
32 Ciencias Médicas
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spelling Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and seriesNou Fontanet, LaiaMartín Gómez, CarmenIsabel Gómez, RebecaBachoud Lévi, Anne CatherineZorzi, GiovannaCapuano, AlessandroBlasco Amaro, Juan AntonioOrtigoza Escobar, Juan DaríoChoreaClinical guidelineDrug therapyNKX2-1Systematic review32 Ciencias MédicasBackground: The NKX2-1-related disorders (NKX2-1-RD) is a rare disorder characterized by choreiform movements along with respiratory and endocrine abnormalities. The European Reference Network of Rare Neurological Disorders funded by the European Commission conducted a systematic review to assess drug treatment of chorea in NKX2-1-RD, aiming to provide clinical recommendations for its management. Methods: A systematic pairwise review using various databases, including MEDLINE, Embase, Cochrane, CINAHL, and PsycInfo, was conducted. The review included patients diagnosed with chorea and NKX2-1-RD genetic diagnosis, drug therapy as intervention, no comparator, and outcomes of chorea improvement and adverse events. The methodological quality of the studies was assessed, and the study protocol was registered in PROSPERO. Results: Of the 1417 studies examined, 28 studies met the selection criteria, consisting of 68 patients. The studies reported 22 different treatments for chorea, including carbidopa/ levodopa, tetrabenazine, clonazepam, methylphenidate, carbamazepine, topiramate, trihexyphenidyl, haloperidol, propranolol, risperidone, and valproate. No clinical improvements were observed with carbidopa/levodopa, tetrabenazine, or clonazepam, and various adverse effects were reported. However, most patients treated with methylphenidate experienced improvements in chorea and reported only a few negative effects. The quality of evidence was determined to be low. Conclusions: The management of chorea in individuals with NKX2-1-RD presents significant heterogeneity and lack of clarity. While the available evidence suggests that methylphenidate may be effective in improving chorea symptoms, the findings should be interpreted with caution due to the limitations of the studies reviewed. Nonetheless, more rigorous and comprehensive studies are necessary to provide sufficient evidence for clinical recommendationsWiley20232023-01-0120232023-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10272/23291reponame:Arias Montano. Repositorio Institucional de la Universidad de Huelvainstname:Universidad de Huelva (UHU)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución-NoComercial-SinDerivadas 3.0 Españahttp://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccessoai:ariasmontano.uhu.es:10272/232912026-06-02T14:58:11Z
dc.title.none.fl_str_mv Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
title Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
spellingShingle Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
Nou Fontanet, Laia
Chorea
Clinical guideline
Drug therapy
NKX2-1
Systematic review
32 Ciencias Médicas
title_short Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
title_full Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
title_fullStr Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
title_full_unstemmed Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
title_sort Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
dc.creator.none.fl_str_mv Nou Fontanet, Laia
Martín Gómez, Carmen
Isabel Gómez, Rebeca
Bachoud Lévi, Anne Catherine
Zorzi, Giovanna
Capuano, Alessandro
Blasco Amaro, Juan Antonio
Ortigoza Escobar, Juan Darío
author Nou Fontanet, Laia
author_facet Nou Fontanet, Laia
Martín Gómez, Carmen
Isabel Gómez, Rebeca
Bachoud Lévi, Anne Catherine
Zorzi, Giovanna
Capuano, Alessandro
Blasco Amaro, Juan Antonio
Ortigoza Escobar, Juan Darío
author_role author
author2 Martín Gómez, Carmen
Isabel Gómez, Rebeca
Bachoud Lévi, Anne Catherine
Zorzi, Giovanna
Capuano, Alessandro
Blasco Amaro, Juan Antonio
Ortigoza Escobar, Juan Darío
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv Chorea
Clinical guideline
Drug therapy
NKX2-1
Systematic review
32 Ciencias Médicas
topic Chorea
Clinical guideline
Drug therapy
NKX2-1
Systematic review
32 Ciencias Médicas
description Background: The NKX2-1-related disorders (NKX2-1-RD) is a rare disorder characterized by choreiform movements along with respiratory and endocrine abnormalities. The European Reference Network of Rare Neurological Disorders funded by the European Commission conducted a systematic review to assess drug treatment of chorea in NKX2-1-RD, aiming to provide clinical recommendations for its management. Methods: A systematic pairwise review using various databases, including MEDLINE, Embase, Cochrane, CINAHL, and PsycInfo, was conducted. The review included patients diagnosed with chorea and NKX2-1-RD genetic diagnosis, drug therapy as intervention, no comparator, and outcomes of chorea improvement and adverse events. The methodological quality of the studies was assessed, and the study protocol was registered in PROSPERO. Results: Of the 1417 studies examined, 28 studies met the selection criteria, consisting of 68 patients. The studies reported 22 different treatments for chorea, including carbidopa/ levodopa, tetrabenazine, clonazepam, methylphenidate, carbamazepine, topiramate, trihexyphenidyl, haloperidol, propranolol, risperidone, and valproate. No clinical improvements were observed with carbidopa/levodopa, tetrabenazine, or clonazepam, and various adverse effects were reported. However, most patients treated with methylphenidate experienced improvements in chorea and reported only a few negative effects. The quality of evidence was determined to be low. Conclusions: The management of chorea in individuals with NKX2-1-RD presents significant heterogeneity and lack of clarity. While the available evidence suggests that methylphenidate may be effective in improving chorea symptoms, the findings should be interpreted with caution due to the limitations of the studies reviewed. Nonetheless, more rigorous and comprehensive studies are necessary to provide sufficient evidence for clinical recommendations
publishDate 2023
dc.date.none.fl_str_mv 2023
2023-01-01
2023
2023-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/10272/23291
url https://hdl.handle.net/10272/23291
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución-NoComercial-SinDerivadas 3.0 España
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución-NoComercial-SinDerivadas 3.0 España
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Arias Montano. Repositorio Institucional de la Universidad de Huelva
instname:Universidad de Huelva (UHU)
instname_str Universidad de Huelva (UHU)
reponame_str Arias Montano. Repositorio Institucional de la Universidad de Huelva
collection Arias Montano. Repositorio Institucional de la Universidad de Huelva
repository.name.fl_str_mv
repository.mail.fl_str_mv
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