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27 results on '"Rubio-Agusti, Ignacio"'

6. Lack of validation of variants associated with cervical dystonia risk: A GWAS replication study

Author

Gómez-Garre, Pilar, Huertas-Fernández, Ismael, Cáceres-Redondo, María Teresa, Alonso-Canovas, Araceli, Bernal-Bernal, Inmaculada, Blanco-Ollero, Alberto, Bonilla-Toribio, Marta, Burguera, Juan Andrés, Carballo, Manuel, Carrillo, Fatima, Catalán-Alonso, José M., Escamilla-Sevilla, Francisco, Espinosa-Rosso, Raul, Fernández-Moreno, María Carmen, García-Caldentey, Juan, García-Moreno, José Manuel, Giacometti-Silveira, Sandra, Gutiérrez-García, Javier, Jesús-Maestre, Silvia, López-Valdés, Eva, Martínez-Castrillo, Juan Carlos, Medialdea-Natera, María Pilar, Méndez-Lucena, Carolina, Mínguez-Castellanos, Adolfo, Moya, Miguel Angel, Ochoa-Sepulveda, Juan José, Ojea, Tomas, Rodríguez, Nuria, Rubio-Agusti, Ignacio, Sillero-Sánchez, Miriam, del Val, Javier, Vargas-González, Laura, and Mir, Pablo

Published
2014
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12. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

Author

Kojovic, Maja, Pareés, Isabel, Lampreia, Tania, Pienczk-Reclawowicz, Karolina, Xiromerisiou, Georgia, Rubio-Agusti, Ignacio, Kramberger, Milica, Carecchio, Miryam, Alazami, Anas M., Brancati, Francesco, Slawek, Jaroslaw, Pirtosek, Zvezdan, Valente, Enza Maria, Alkuraya, Fowzan S., Edwards, Mark J., and Bhatia, Kailash P.

Published
2013
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16. The Brighter Side of Music in Dystonia

Author

Kojovic, Maja, Pareés, Isabel, Sadnicka, Anna, Kassavetis, Panagiotis, Rubio-Agusti, Ignacio, Saifee, Tabish A., Bologna, Matteo, Rothwell, John C., Edwards, Mark J., and Bhatia, Kailash P.

Published
2012
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19. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Author

Mencacci, Niccolo E, Rubio-Agusti, Ignacio, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M P, Peall, Kathryn, Morris, Huw R, Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Carecchio, Miryam, Zdebik, Anselm, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M, Foltynie, Thomas, Abramov, Andrey Y, Asmus, Friedrich, Gasser, Thomas, Bhatia, Kailash P, Wood, Nicholas W, Ludtmann, Marthe H R, Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, and Bettencourt, Conceição

Subjects
genetics [Dystonic Disorders], genetics [Synaptic Transmission], Male, Potassium Channels, genetics [Mutation, Missense], Molecular Sequence Data, pathology [Dystonic Disorders], Mutation, Missense, Synaptic Transmission, ddc:570, genetics [Adaptor Proteins, Signal Transducing], Germany, Report, genetics [Genes, Dominant], genetics [Exome], Genetics, metabolism [Dystonic Disorders], Humans, Exome, Gene Regulatory Networks, Genetics(clinical), Adaptor Proteins, Signal Transducing, Genes, Dominant, Base Sequence, genetics [Potassium Channels], Brain, Chromosome Mapping, Sequence Analysis, DNA, KCTD17 protein, human, United Kingdom, Pedigree, metabolism [Brain], Dystonic Disorders, genetics [Gene Regulatory Networks], Female
Abstract

Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%-50% of cases. After excluding SGCE mutations, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c. 434 G>A p.(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D cases without mutations in SGCE revealed the same KCTD17 variant in a German family. The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observed in M-D due to SGCE mutations. All cases initially presented with mild myoclonus affecting the upper limbs. Dystonia showed a progressive course, with increasing severity of symptoms and spreading from the cranio-cervical region to other sites. KCTD17 is abundantly expressed in all brain regions with the highest expression in the putamen. Weighted gene co-expression network analysis, based on mRNA expression profile of brain samples from neuropathologically healthy individuals, showed that KCTD17 is part of a putamen gene network, which is significantly enriched for dystonia genes. Functional annotation of the network showed an over-representation of genes involved in post-synaptic dopaminergic transmission. Functional studies in mutation bearing fibroblasts demonstrated abnormalities in endoplasmic reticulum-dependent calcium signaling. In conclusion, we demonstrate that the KCTD17 c. 434 G>A p.(Arg145His) mutation causes autosomal dominant M-D. Further functional studies are warranted to further characterize the nature of KCTD17 contribution to the molecular pathogenesis of M-D.

Published
2015
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23. Physical precipitating factors in functional movement disorders

Author

Pareés, Isabel, primary, Kojovic, Maja, additional, Pires, Carolina, additional, Rubio-Agusti, Ignacio, additional, Saifee, Tabish A., additional, Sadnicka, Anna, additional, Kassavetis, Panagiotis, additional, Macerollo, Antonella, additional, Bhatia, Kailash P., additional, Carson, Alan, additional, Stone, Jon, additional, and Edwards, Mark J., additional

Published
2014
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25. Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Author

Charlesworth, Gavin, primary, Plagnol, Vincent, additional, Holmström, Kira M., additional, Bras, Jose, additional, Sheerin, Una-Marie, additional, Preza, Elisavet, additional, Rubio-Agusti, Ignacio, additional, Ryten, Mina, additional, Schneider, Susanne A., additional, Stamelou, Maria, additional, Trabzuni, Daniah, additional, Abramov, Andrey Y., additional, Bhatia, Kailash P., additional, and Wood, Nicholas W., additional

Published
2012
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27. [Familial idiopathic paroxysmal kinesigenic dyskinesia: its natural history and a descriptive study in three Spanish families].

Author

Palau-Bargues J, Rubio-Agusti I, Burguera JA, Vilchez-Padilla JJ, and Villanueva VE

Subjects
Adolescent, Child, Chorea diagnosis, Chorea drug therapy, Female, Humans, Male, Pedigree, Retrospective Studies, Spain, Chorea genetics
Abstract

Introduction: Paroxysmal kinesigenic dyskinesia (PKD) is a disorder that is characterised by brief episodes of involuntary movements triggered by other sudden movements., Patients and Methods: Here we describe the cases of nine patients from three unrelated families who had PKD in its familial idiopathic form., Results: The majority of the patients (77.7%) were males. The mean age at onset was 10.3 years. All the subjects presented sudden movements as factors that precipitated the crises, which lasted < 10 s in 88.8% of cases. Two thirds (66.6%) of the patients were treated with carbamazepine, phenytoin and valproic acid and all of them responded well. Spontaneous remission occurred in 62.5% of the patients over 20 years of age and in a further 25% there was a significant decrease in the number of crises., Conclusions: In our sample the proportion of patients who presented spontaneous remission was greater than in that reported in previous studies. As in other series, we found positive responses to antiepileptic drugs other than carbamazepine.

Published
2010

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