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Blanco, K. Hankiewicz, S. Llufriu, L. Sabater, F. Graus, A. Saiz" "autores" => array:7 [ 0 => array:2 [ "nombre" => "Y." "apellidos" => "Blanco" ] 1 => array:2 [ "nombre" => "K." "apellidos" => "Hankiewicz" ] 2 => array:2 [ "nombre" => "S." "apellidos" => "Llufriu" ] 3 => array:2 [ "nombre" => "L." "apellidos" => "Sabater" ] 4 => array:2 [ "nombre" => "F." "apellidos" => "Graus" ] 5 => array:2 [ "nombre" => "A." "apellidos" => "Saiz" ] 6 => array:1 [ "colaborador" => "from the Spanish Neuromyelitis Optica Group" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S217358081070002X?idApp=UINPBA00004N" "url" => "/21735808/0000002500000001/v1_201305151205/S217358081070002X/v1_201305151205/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original Article</span>" "titulo" => "New mutation in the <span class="elsevierStyleItalic">PSEN1</span> (E120G) gene associated with early onset Alzheimer's disease" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "13" "paginaFinal" => "16" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "A. Lladó, R. Sánchez-Valle, M.J. Rey, P. Mercadal, C. Almenar, D. López-Villegas, J. Fortea, J.L. Molinuevo" "autores" => array:8 [ 0 => array:4 [ "nombre" => "A." "apellidos" => "Lladó" "email" => array:1 [ 0 => "allado@clinic.ub.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "R." "apellidos" => "Sánchez-Valle" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "M.J." "apellidos" => "Rey" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "P." "apellidos" => "Mercadal" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 4 => array:3 [ "nombre" => "C." "apellidos" => "Almenar" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] 5 => array:3 [ "nombre" => "D." "apellidos" => "López-Villegas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] 6 => array:3 [ "nombre" => "J." "apellidos" => "Fortea" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 7 => array:3 [ "nombre" => "J.L." "apellidos" => "Molinuevo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:5 [ 0 => array:3 [ "entidad" => "Unitat d’Alzheimer i altres trastorns cognitius, Servei de Neurologia, ICN, Hospital Clínic de Barcelona, Institut d’Investigació Biomédica August Pi i Sunyer (IDIBAPS), Barcelona, Spain" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Banc de Teixits Neurològics, Universitat de Barcelona/Hospital Clínic, Barcelona, Spain" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Geriatria, Programa de Trastorns Cognitius, Centres Assistencials Emili Mira i López, Santa Coloma de Gramenet, Barcelona, Spain" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Àrea de Psicogeriatria, Hospital Benito Menni, Sant Boi de Llobregat, Barcelona, Spain" "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] 4 => array:3 [ "entidad" => "Neurologia, Unitat de Trastorns Cognitius i de la Conducta, Centres Assistencials Emili Mira i López, Santa Coloma de Gramenet, Barcelona, Spain" "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Author for correspondence." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Nueva mutación en el gen <span class="elsevierStyleItalic">PSEN1</span> (E120G) asociada a enfermedad de Alzheimer de inicio precoz" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2009-04-21" "fechaAceptado" => "2009-09-28" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec156749" "palabras" => array:5 [ 0 => "Alzheimer's disease" 1 => "Presenilin 1" 2 => "Early onset dementia" 3 => "Mutation" 4 => "Familial dementia" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec156748" "palabras" => array:5 [ 0 => "Enfermedad de Alzheimer" 1 => "Presenilina 1" 2 => "Demencia de inicio precoz" 3 => "Mutación" 4 => "Demencia familiar" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span class="elsevierStyleSectionTitle">Objective</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">To describe a novel mutation in exon 5 of the presenilin 1 gene (E120G) associated with early-onset autosomal dominant Alzheimer's disease (AD).</p> <span class="elsevierStyleSectionTitle">Patient and methods</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">The proband was a man who began with memory loss and progressive cognitive decline at the age of 34. His father and his sister suffered from early-onset cognitive decline. The genetic study performed on the blood sample using the single strand conformation polymorphism (SSCP) technique did not detect any abnormality suggestive of the presence of a mutation in <span class="elsevierStyleItalic">PSEN1, PSEN2,</span> and <span class="elsevierStyleItalic">APP</span>. In the last stage of the disease the patient had seizures and gait alteration. He died at the age of 44. Coding exons 3–12 of <span class="elsevierStyleItalic">PSEN1</span> were studied by direct sequencing using isolated DNA from frozen brain tissue of the proband.</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">The neuropathological examination showed the presence of frequent amyloid plaques and neurofi brillary tangles and severe amyloid angiopathy. The direct sequencing of the <span class="elsevierStyleItalic">PSEN1</span> gene disclosed the presence of the E120G mutation.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">E120G is a novel mutation in <span class="elsevierStyleItalic">PSEN1</span> that probably causes early-onset autosomal dominant AD. Absence of genetic alterations in screening techniques (SSCP) does not rule out the presence of mutations. We recommend direct sequencing for the genetic study of patients with early-onset autosomal dominant AD.</p>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Describir una nueva mutación en el exón 5 del gen <span class="elsevierStyleItalic">PSEN1</span> (E120G) asociada a enfermedad de Alzheimer (EA) de inicio precoz y patrón de herencia autosómico dominante.</p> <span class="elsevierStyleSectionTitle">Paciente y métodos</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">El probando era un varón en el que se inició la enfermedad a los 34 años con problemas de memoria y deterioro cognitivo progresivo. Su padre y una hermana presentaron deterioro cognitivo de inicio precoz. El estudio genético por <span class="elsevierStyleItalic">single strand conformation polymorphism</span> (SSCP) de una muestra sanguínea del probando no detectó anormalidades que indicaran mutaciones en <span class="elsevierStyleItalic">PSEN1, PSEN2</span> y <span class="elsevierStyleItalic">APP</span>. En los estadios finales de la enfermedad, el paciente presentó crisis epilépticas y alteración de la marcha. El paciente falleció a los 44 años. Los exones 3–12 del gen <span class="elsevierStyleItalic">PSEN1</span> fueron analizados por secuenciación directa utilizando ADN aislado del tejido cerebral congelado del probando.</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">El examen neuropatológico reveló abundantes placas seniles y ovillos neurofibrilares, junto con una angiopatía amiloidea severa. El nuevo estudio genético del gen <span class="elsevierStyleItalic">PSEN1</span> realizado mediante secuenciación directa detectó la mutación E120G.</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">E120G es una nueva mutación en <span class="elsevierStyleItalic">PSEN1,</span> probable causa de EA de inicio precoz con patrón autosómico dominante. La ausencia de mutaciones en estudios genéticos de cribado (SSCP) no descarta que haya mutaciones. Se recomienda el estudio genético mediante secuenciación directa en los casos de EA de inicio precoz y patrón de herencia autosómico dominante.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:11 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." 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Year/Month | Html | Total | |
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2024 November | 1 | 0 | 1 |
2024 October | 9 | 9 | 18 |
2024 September | 18 | 6 | 24 |
2024 August | 13 | 4 | 17 |
2024 July | 5 | 7 | 12 |
2024 June | 7 | 5 | 12 |
2024 May | 9 | 3 | 12 |
2024 April | 4 | 8 | 12 |
2024 March | 12 | 12 | 24 |
2024 February | 10 | 11 | 21 |
2024 January | 6 | 13 | 19 |
2023 December | 12 | 8 | 20 |
2023 November | 2 | 9 | 11 |
2023 October | 11 | 10 | 21 |
2023 September | 7 | 8 | 15 |
2023 August | 7 | 8 | 15 |
2023 July | 13 | 34 | 47 |
2023 June | 9 | 11 | 20 |
2023 May | 10 | 7 | 17 |
2023 April | 1 | 5 | 6 |
2023 March | 0 | 4 | 4 |
2023 February | 9 | 5 | 14 |
2023 January | 3 | 4 | 7 |
2022 December | 4 | 6 | 10 |
2022 November | 16 | 15 | 31 |
2022 October | 13 | 3 | 16 |
2022 September | 5 | 16 | 21 |
2022 August | 9 | 12 | 21 |
2022 July | 6 | 9 | 15 |
2022 June | 7 | 7 | 14 |
2022 May | 10 | 11 | 21 |
2022 April | 12 | 8 | 20 |
2022 March | 7 | 19 | 26 |
2022 February | 4 | 11 | 15 |
2022 January | 5 | 9 | 14 |
2021 December | 3 | 12 | 15 |
2021 November | 6 | 20 | 26 |
2021 October | 9 | 10 | 19 |
2021 September | 4 | 9 | 13 |
2021 August | 4 | 7 | 11 |
2021 July | 11 | 4 | 15 |
2021 June | 8 | 12 | 20 |
2021 May | 9 | 6 | 15 |
2021 April | 4 | 17 | 21 |
2021 March | 14 | 6 | 20 |
2021 February | 14 | 7 | 21 |
2021 January | 2 | 3 | 5 |
2020 December | 11 | 7 | 18 |
2020 November | 4 | 9 | 13 |
2020 October | 9 | 5 | 14 |
2020 September | 9 | 7 | 16 |
2020 August | 8 | 6 | 14 |
2020 July | 2 | 4 | 6 |
2020 June | 3 | 3 | 6 |
2020 May | 5 | 14 | 19 |
2020 April | 1 | 2 | 3 |
2020 March | 3 | 4 | 7 |
2020 February | 3 | 4 | 7 |
2020 January | 10 | 9 | 19 |
2019 December | 7 | 14 | 21 |
2019 November | 4 | 14 | 18 |
2019 October | 1 | 2 | 3 |
2019 September | 4 | 6 | 10 |
2019 August | 0 | 6 | 6 |
2019 July | 18 | 7 | 25 |
2019 June | 18 | 18 | 36 |
2019 May | 32 | 27 | 59 |
2019 April | 13 | 16 | 29 |
2019 March | 1 | 4 | 5 |
2019 February | 1 | 7 | 8 |
2019 January | 0 | 2 | 2 |
2018 December | 1 | 6 | 7 |
2018 November | 2 | 0 | 2 |
2018 October | 3 | 5 | 8 |
2018 September | 1 | 1 | 2 |
2018 August | 0 | 1 | 1 |
2018 July | 0 | 3 | 3 |
2018 June | 3 | 0 | 3 |
2018 May | 1 | 3 | 4 |
2018 March | 2 | 2 | 4 |
2017 December | 1 | 1 | 2 |
2017 November | 2 | 4 | 6 |
2017 October | 3 | 0 | 3 |
2017 September | 0 | 8 | 8 |
2017 August | 5 | 3 | 8 |
2017 July | 1 | 0 | 1 |
2017 June | 10 | 3 | 13 |
2017 May | 12 | 0 | 12 |
2017 April | 3 | 1 | 4 |
2017 March | 14 | 1 | 15 |
2017 February | 10 | 0 | 10 |
2017 January | 2 | 0 | 2 |
2016 December | 1 | 0 | 1 |
2016 November | 1 | 0 | 1 |
2016 October | 1 | 0 | 1 |
2016 September | 5 | 1 | 6 |
2016 August | 1 | 0 | 1 |