array:22 [ "pii" => "S0025775300714849" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71484-9" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71484" "copyright" => "Elsevier España, S.L.. Todos los derechos reservados" "copyrightAnyo" => "2000" "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2000;115:121-5" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 2765 "formatos" => array:3 [ "EPUB" => 6 "HTML" => 2649 "PDF" => 110 ] ] "itemSiguiente" => array:18 [ "pii" => "S0025775300714850" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71485-0" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71485" "copyright" => "Elsevier España, S.L." "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2000;115:126-31" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 8236 "formatos" => array:3 [ "EPUB" => 7 "HTML" => 8072 "PDF" => 157 ] ] "es" => array:10 [ "idiomaDefecto" => true "titulo" => "Eficacia de la terapia de grupo para alcohólicos. Resultados de un ensayo clínico controlado" "tienePdf" => "es" "tieneTextoCompleto" => 0 "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "126" "paginaFinal" => "131" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Efficacy of group therapy in the treatment of alcoholics. Results of a controlled trial" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Miquel Monras, Neus Freixa, Lluisa Ortega, Anna Lligoña, Silvia Mondón, Antoni Gual" "autores" => array:6 [ 0 => array:2 [ "nombre" => "Miquel" "apellidos" => "Monras" ] 1 => array:2 [ "nombre" => "Neus" "apellidos" => "Freixa" ] 2 => array:2 [ "nombre" => "Lluisa" "apellidos" => "Ortega" ] 3 => array:2 [ "nombre" => "Anna" "apellidos" => "Lligoña" ] 4 => array:2 [ "nombre" => "Silvia" "apellidos" => "Mondón" ] 5 => array:2 [ "nombre" => "Antoni" "apellidos" => "Gual" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300714850?idApp=UINPBA00004N" "url" => "/00257753/0000011500000004/v1_201307291644/S0025775300714850/v1_201307291644/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Distribución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "121" "paginaFinal" => "125" ] ] "autores" => array:3 [ 0 => array:3 [ "autoresLista" => "David Mayo Cabrero" "autores" => array:1 [ 0 => array:4 [ "nombre" => "David" "apellidos" => "Mayo Cabrero" "email" => array:1 [ 0 => "gmolecular@fjd.es" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Dr. D. Mayo Cabrero. Departamento de Genética. Fundación Jiménez Díaz. Avda. Reyes Católicos, 2. Ciudad Universitaria. 28040 Madrid." ] ] ] 1 => array:3 [ "autoresLista" => "Jaime Hernández Cristóbal, Susana Cantarero Duque" "autores" => array:2 [ 0 => array:3 [ "nombre" => "Jaime" "apellidos" => "Hernández Cristóbal" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "Susana" "apellidos" => "Cantarero Duque" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:1 [ 0 => array:3 [ "entidad" => "Grupo Cooperativo de Ataxias. Departamento de Genética y Neurología. Fundación Jiménez Díaz. Madrid." "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "autoresLista" => "Beatriz Martínez Delgado, Miguel Urioste Azcorra, Mercedes Robledo Batanero, Pedro García-Ruiz Espiga, Javier Benítez Ortiz" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Beatriz" "apellidos" => "Martínez Delgado" ] 1 => array:2 [ "nombre" => "Miguel" "apellidos" => "Urioste Azcorra" ] 2 => array:2 [ "nombre" => "Mercedes" "apellidos" => "Robledo Batanero" ] 3 => array:2 [ "nombre" => "Pedro" "apellidos" => "García-Ruiz Espiga" ] 4 => array:2 [ "nombre" => "Javier" "apellidos" => "Benítez Ortiz" ] ] "afiliaciones" => array:1 [ 0 => array:1 [ "entidad" => "Grupo Cooperativo de Ataxias. Departamento de Genética. Fundación Jiménez Díaz. Madrid." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Distribution of dominant ataxias and Friedreich's ataxia in the Spanish population" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "1999-10-07" "fechaAceptado" => "2000-02-08" "PalabrasClave" => array:1 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec222492" "palabras" => array:2 [ 0 => "Ataxia;" 1 => "Ataxia de Friedreich." ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Fundamento</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Establecer la distribución de los distintos tipos de ataxias dominantes y ataxia de Friedreich en la población española.</p> <span class="elsevierStyleSectionTitle">Pacientes y método</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Se han estudiado 121 pacientes que presentaban ataxia de la marcha como síntoma de presentación de un proceso neurodegenerativo. En todos ellos se realizó un estudio molecular que incluyó el análisis de los genes SCA 1, SCA 2, SCA 3, SCA 6, SCA 7,SCA 8, DRPLA, a-TTP (tocopherol transfer protein) y el gen responsable de la ataxia de Frie-dreich.</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">El estudio puso de manifiesto que la ataxia de Friedreich es la forma más frecuen-te en la población española, pues supone el 34,4% del total de las formas hereditarias. Un pa-ciente presentó mutación en el gen a-TTP. Entre las formas dominantes, SCA 3fue la más fre-cuente (27,3%), seguida de SCA 7(18%), SCA (9%) y SCA 2(4,5%). No se encontraron mutaciones en los genes SCA 1y DRPLA. Dos de los 60 casos aparentemente esporádicos pre-sentaban mutaciones en los genes SCA 6y SCA 8.</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">El diagnóstico genético constituye la principal herramienta para tratar de perfilar las diferentes formas clínicas de las ataxias. El 41,2% de las formas dominantes y el 43,5% de las recesivas no presentaron mutación en ninguno de los genes estudiados, lo que apunta a la existencia de nuevos genes candidatos.</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">To establish the distribution of the different forms of dominant ataxias and Frie-dreich ataxia in Spanish population.</p> <span class="elsevierStyleSectionTitle">Patients and methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">We have performed a molecular study in 121 patients presenting ataxia as the first sign of neurodegenerative disease. In these patients, we have performed a molecu-lar study of SCA 1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, DRPLA, a-TTP (tocopherol transfer protein) and Friedreich's ataxia genes.</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">The study showed that the Friedreich ataxia is the most frequent form representing 34.4% of the total of the hereditary ataxias. One patient presented mutation in a-TTP gene. Among the dominant forms SCA 3was the most frequent (27.3%) followed by SCA 7(16%), SCA 6(9%) and SCA 2(4.5%). We have not found mutations in SCA 1and DRPLAgenes. Two of 60 apparently sporadic cases presented mutations in the SCA 6and SCA 8.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">The genetic analysis is the principal method to distinguish the different clinic forms of ataxia. We have not found mutations in 41.2% of dominant forms and in 43.3% of re-cessive forms. These results suggest the existence of new candidates genes.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias BibliogrÁFicas" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:30 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The clinical features and classifica-tion of the late onset autosomal dominant cere-bellar ataxia. A study of 11 families including" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "A.E. 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Journal Information
Distribución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española
Distribution of dominant ataxias and Friedreich's ataxia in the Spanish population
David Mayo Cabrero
Corresponding author
gmolecular@fjd.es
Correspondencia: Dr. D. Mayo Cabrero. Departamento de Genética. Fundación Jiménez Díaz. Avda. Reyes Católicos, 2. Ciudad Universitaria. 28040 Madrid.
Correspondencia: Dr. D. Mayo Cabrero. Departamento de Genética. Fundación Jiménez Díaz. Avda. Reyes Católicos, 2. Ciudad Universitaria. 28040 Madrid.
a Grupo Cooperativo de Ataxias. Departamento de Genética y Neurología. Fundación Jiménez Díaz. Madrid.
Beatriz Martínez Delgado, Miguel Urioste Azcorra, Mercedes Robledo Batanero, Pedro García-Ruiz Espiga, Javier Benítez Ortiz
Grupo Cooperativo de Ataxias. Departamento de Genética. Fundación Jiménez Díaz. Madrid.