Ammonium tetrathiomolybdate in the decoppering phase treatment of Wilson's disease with neurological symptoms: A case series

Autor: Oriol De Fabregues, Jaume Viñas, Antoni Palasí, Manuel Quintana, Ignasi Cardona, Cristina Auger, Víctor Vargas

Publikováno v: Brain and Behavior, Vol 10, Iss 5, Pp n/a-n/a (2020)

Abstract Objectives To present our experience with ammonium tetrathiomolybdate (ATTM) in the decoppering phase treatment of Wilson's disease (WD) with neurological symptoms. Methods An uncontrolled longitudinal study was carried out to describe a cas

Externí odkaz: https://doaj.org/article/8a2053001c494337b5e9feffd4a9231b

Smoking is associated with age at disease onset in Parkinson's disease

Autor: Irene Rosas, Germán Morís, Eliecer Coto, Marta Blázquez-Estrada, Esther Suárez, Ciara García-Fernández, Carmen Martínez, Israel Duarte Herrera, Sergio Pérez-Oliveira, Victoria Álvarez, Manuel Menéndez-González, Astrid D. Adarmes-Gómez, Miquel Aguilar, Ignacio Alvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Marta Bonilla-Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza-Rueda, Ana Cámara, Fátima Carrillo, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Monica Diez-Fairen, Oriol Dols-Icardo, Oriol de Fabregues, Pilar Sanz Cartagena, Jacinto Duarte, Raquel Duran, Francisco Escamilla-Sevilla, Mario Ezquerra, Cici Feliz, Rubén Fernández-Santiago, Manel Fernández, Pedro García-Ruiz, Pilar Gómez-Garre, Maria Jose Gomez Heredia, Isabel Gonzalez-Aramburu, Ana Gorostidi, Janet Hoenicka, Jon Infante, Silvia Jesús, Adriano Jimenez-Escrig, Jaime Kulisevsky, Miguel A. Labrador-Espinosa, Jose Luis Lopez-Sendon, Adolfo López de Munain, Daniel Macias-Garcia, Irene Martínez-Torres, Juan Marín, Maria Jose Marti, Juan Carlos Martínez-Castrillo, Marina Mata Álvarez-Santullano, Adolfo Mínguez-Castellanos, Pablo Mir, Elisabet Mondragon Rezola, Esteban Muñoz, Javier Pagonabarraga, Pau Pastor, Francisco Perez Errazquin, Maria Teresa Periñán, Javier Ruiz-Martínez, Clara Ruz, Antonio Sanchez Rodriguez, María Sierra, Cesar Tabernero, Juan Pablo Tartari, Eduard Tolosa, Francesc Valldeoriola, Lydia Vela, Francisco Vives, Berta Pascual-Sedano, Jorge Hernández-Vara, Dolores Vilas Rolán, Sara Bandrés-Ciga

Publikováno v: Parkinsonism & Related Disorders. 97:79-83

[Background] Previous studies linked disease-progression variables such as age at onset or survival to both genetic, and non-genetic factors in Parkinson's disease (PD) patients.
[Objective] The aim of this study was to assess how genetic and no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1096cb98a9c7c672b37a277e26f74aba
https://doi.org/10.1016/j.parkreldis.2022.03.005

Subclinical affective and cognitive fluctuations in Parkinson's disease: a randomized double-blind double-dummy study of Oral vs. Intrajejunal Levodopa

Autor: Ane Crespo-Cuevas, Antonia Campolongo, Cristina Izquierdo-Barrionuevo, Javier Pagonabarraga, Helena Bejr-Kasem, Berta Pascual-Sedano, Saul Martinez-Horta, Juan Marín-Lahoz, Jaime Kulisevsky, Matilde Calopa, Andrea Horta-Barba, Víctor Puente, Oriol De Fabregues, Ignacio Aracil-Bolaños, Jesús Pérez-Pérez

Publikováno v: Journal of neurology. 267(11)

Chronic levodopa treatment in Parkinson’s disease (PD) may promote undesirable motor and non-motor fluctuations. Compared to chronic oral levodopa treatment, continuous infusion of levodopa/carbidopa intestinal gel (LCIG) in advanced PD reduces mot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6498879a806ff13dd7fd501cac1f416b
https://pubmed.ncbi.nlm.nih.gov/32607644

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

Autor: Joaquín A. Fernández-Ramos, Belén Pérez-Dueñas, Laura Martí-Sánchez, Jesús Eiris, Maite Gárriz-Luis, Marta Correa-Vela, Anna Cazurro, Laura Toledo, J. Cabrera, Elena Maqueda, Gema Iglesias, Sergio Aguilera-Albesa, Alfons Macaya, Marcos Madruga, Carla Rodríguez, Anna Marcé-Grau, Carmen Espinós, Heidy Baide-Mairena, Oriol De Fabregues, Maria Isabel Vanegas, María José Martí, Roser Pons, Sara Mellid

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
PARKINSONISM & RELATED DISORDERS
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Objective To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools. Method Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b64d2943ab9cacbce94691633e2b394c
https://pubmed.ncbi.nlm.nih.gov/33022436

Cerebrospinal fluid levels of coenzyme Q10 are reduced in multiple system atrophy

Autor: Francesc Valldeoriola, Lluís Planellas, Francesca Antonelli, Darly M. Giraldo, Serge Jaumà, Manel Fernández, Paloma Bravo, Claustre Pont-Sunyer, Mario Ezquerra, Josep Saura, Rubén Fernández-Santiago, Eduard Tolosa, Jaume Campdelacreu, Domenica Marchese, Nuria Caballol, Esteban Muñoz, María José Martí, Oriol De Fabregues, Pau Pastor, Montserrat Pujol, Matilde Calopa, Yaroslau Compta, Marta Soto, Ana Cámara, Víctor Puente, Gian Gaetano Tartaglia, Jorge Hernández-Vara, Teresa Botta-Orfila, Javier Pagonabarraga, Àngels Bayés, Ferran Torres, Asunción Ávila

Introduction The finding of mutations of the COQ2 gene and reduced coenzyme Q10 levels in the cerebellum in multiple system atrophy (MSA) suggest that coenzyme Q10 is relevant to MSA pathophysiology. Two recent studies have reported reduced coenzyme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85deda96c149e988ee008cf3bdc4a805
http://hdl.handle.net/11573/1451347