Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
dc.contributor.author | Martínez Rubio, Dolores | |
dc.contributor.author | Hinarejos, Isabel | |
dc.contributor.author | Sancho, Paula | |
dc.contributor.author | Gorría Redondo, Nerea | |
dc.contributor.author | Bernadó Fonz, Raquel | |
dc.contributor.author | Tello, Cristina | |
dc.contributor.author | Marco Marín, Clara | |
dc.contributor.author | Martí Carrera, María Itxaso | |
dc.contributor.author | Martínez González, María Jesús | |
dc.contributor.author | García Ribes, Ainhoa | |
dc.contributor.author | Baviera Muñoz, Raquel | |
dc.contributor.author | Sastre Bataller, Isabel | |
dc.contributor.author | Martínez Torres, Irene | |
dc.contributor.author | Duat Rodríguez, Anna | |
dc.contributor.author | Janeiro, Patrícia | |
dc.contributor.author | Moreno, Esther | |
dc.contributor.author | Pías Peleteiro, Leticia | |
dc.contributor.author | O’Callaghan Gordo, Mar | |
dc.contributor.author | Ruiz Gómez, Ángeles | |
dc.contributor.author | Muñoz, Esteban | |
dc.contributor.author | Martí, Maria Josep | |
dc.contributor.author | Sánchez Monteagudo, Ana | |
dc.contributor.author | Fuster, Candela | |
dc.contributor.author | Andrés Bordería, Amparo | |
dc.contributor.author | Pons, Roser Maria | |
dc.contributor.author | Jesús Maestre, Silvia | |
dc.contributor.author | Mir, Pablo | |
dc.contributor.author | Lupo, Vincenzo | |
dc.contributor.author | Pérez Dueñas, Belén | |
dc.contributor.author | Darling, Alejandra | |
dc.contributor.author | Aguilera Albesa, Sergio | |
dc.contributor.author | Espinós, Carmen | |
dc.date.accessioned | 2022-11-04T13:30:03Z | |
dc.date.available | 2022-11-04T13:30:03Z | |
dc.date.issued | 2022-10-06 | |
dc.identifier.citation | International Journal of Molecular Sciences 23(19) : (2022) // Article ID 11847 | es_ES |
dc.identifier.issn | 1422-0067 | |
dc.identifier.uri | http://hdl.handle.net/10810/58251 | |
dc.description.abstract | Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7, GLB1, and KIF1A, suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1, KIF1A, SPTBN2, PLA2G6, PMPCA, and PRDX3. The novel variants were investigated by structural modelling, luciferase analysis, transcript/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype. | es_ES |
dc.description.sponsorship | This work was supported by the Instituto de Salud Carlos III (ISCIII)—Subdirección General de Evaluación y Fomento de la Investigación within the framework of the National R + D+I Plan co-funded with European Regional Development Funds (ERDF) [Grants PI18/00147 and PI21/00103 to CE]; the Fundació La Marató TV3 [Grants 20143130 and 20143131 to BPD and CE]; and by the Generalitat Valenciana [Grant PROMETEO/2018/135 to CE]. Part of the equipment employed in this work was funded by Generalitat Valenciana and co-financed with ERDF (OP ERDF of Comunitat Valenciana 2014–2020). PS had an FPU-PhD fellowship funded by the Spanish Ministry of Education, Culture and Sport [FPU15/00964]. IH has a PFIS-PhD fellowship [FI19/00072]. ASM has a contract funded by the Spanish Foundation Per Amor a l’Art (FPAA). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | MDPI | es_ES |
dc.relation | info:eu-repo/grantAgreement/MICIU/FPU15/00964 | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.subject | movement disorders | es_ES |
dc.subject | ataxia | es_ES |
dc.subject | cerebellar atrophy | es_ES |
dc.subject | neurodegeneration with brain iron accumulation (NBIA) | es_ES |
dc.subject | gene panel | es_ES |
dc.subject | exome sequencing | es_ES |
dc.title | Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.date.updated | 2022-10-13T15:47:16Z | |
dc.rights.holder | © 2022 by the authors.Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/ 4.0/). | es_ES |
dc.relation.publisherversion | https://www.mdpi.com/1422-0067/23/19/11847 | es_ES |
dc.identifier.doi | 10.3390/ijms231911847 | |
dc.departamentoes | Pediatría | |
dc.departamentoeu | Pediatria |
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Except where otherwise noted, this item's license is described as © 2022 by the authors.Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/ 4.0/).