RT Journal Article
T1 Systematic review of drug therapy for chorea in NXK2-1- related disorders: Efficacy and safety evidence from case studies and series
A1 Nou Fontanet, Laia
A1 Martín Gómez, Carmen
A1 Isabel Gómez, Rebeca
A1 Bachoud Lévi, Anne Catherine
A1 Zorzi, Giovanna
A1 Capuano, Alessandro
A1 Blasco Amaro, Juan Antonio
A1 Ortigoza Escobar, Juan Darío
AB 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, consistingof 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 clinicalimprovements were observed with carbidopa/levodopa, tetrabenazine, or clonazepam,and various adverse effects were reported. However, most patients treated with methylphenidateexperienced 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 significantheterogeneity and lack of clarity. While the available evidence suggests that methylphenidatemay be effective in improving chorea symptoms, the findings should be interpreted with cautiondue to the limitations of the studies reviewed. Nonetheless, more rigorous and comprehensivestudies are necessary to provide sufficient evidence for clinical recommendations
PB Wiley
SN 1351-5101
SN 1468-1331 (electrónico)
YR 2023
FD 2023
LK https://hdl.handle.net/10272/23291
UL https://hdl.handle.net/10272/23291
LA eng
NO Nou‐Fontanet, L., Martín‐Gómez, C., Isabel‐Gómez, R., Bachoud‐Lévi, A., Zorzi, G., Capuano, A., Blasco‐Amaro, J. A., & Ortigoza‐Escobar, J. D. (2023). Systematic review of drug therapy for chorea in NXK2‐1‐related disorders: Efficacy and safety evidence from case studies and series. In European Journal of Neurology (Vol. 30, Issue 12, pp. 3928–3948). Wiley. https://doi.org/10.1111/ene.16038
NO This study is supported by the European Commission within the contract SANTE/2018/B3/030-SI2.813822under which the European Reference Networks (ERNs) Guidelines programme is being developed. This work is produced within the framework of the European Reference Network for Rare Neurological Diseases, Project ID 739510.
DS Repositorio Institucional de la Universidad de Huelva
RD 1 jun 2026