Letter to the Editor
Neuroacanthocytosis
Adrian Danek
Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München, Germany
Benedikt Bader
Zentrum für Neuropathologie und Prionforschung, Ludwig-Maximilians-Universität, München, Germany
Ruth H. Walker
Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY
Mount Sinai School of Medicine, New York, NY
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Case Report and Literature Review" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "136" "paginaFinal" => "139" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig1" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 521 "Ancho" => 467 "Tamanyo" => 42149 ] ] "descripcion" => array:1 [ "en" => "<p id="spara10" class="elsevierStyleSimplePara elsevierViewall">Gross aspect of the explanted heart, showing the characteristic non-compaction involving the inlet and apical portion of the left ventricle but sparing the ventricular septum.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Natasha Damásio Fairbanks Barbosa, Estela Azeka, Vera Demarchi Aiello, Fernanda Viana, Marcelo Jatene, Carla Tanamati, Miguel Barbero Marcial" "autores" => array:7 [ 0 => array:2 [ "nombre" => "Natasha Damásio Fairbanks" "apellidos" => "Barbosa" ] 1 => array:2 [ "nombre" => "Estela" "apellidos" => "Azeka" ] 2 => array:2 [ "nombre" => "Vera Demarchi" "apellidos" => "Aiello" ] 3 => array:2 [ "nombre" => "Fernanda" "apellidos" => "Viana" ] 4 => array:2 [ "nombre" => "Marcelo" "apellidos" => "Jatene" ] 5 => array:2 [ "nombre" => "Carla" "apellidos" => "Tanamati" ] 6 => array:2 [ "nombre" => "Miguel Barbero" "apellidos" => "Marcial" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1807593222028551?idApp=UINPBA00004N" "url" => "/18075932/0000006300000001/v1_202212060857/S1807593222028551/v1_202212060857/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S1807593222028538" "issn" => "18075932" "doi" => "10.1590/S1807-59322008000100020" "estado" => "S300" "fechaPublicacion" => "2008-02-01" "aid" => "2853" "copyright" => "CLINICS" "documento" => "article" "crossmark" => 0 "licencia" => "https://creativecommons.org/licenses/by-nc/3.0/" "subdocumento" => "rev" "cita" => "Clinics. 2008;63:121-34" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Review</span>" "titulo" => "Non Heart-Beating Donors in England" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "121" "paginaFinal" => "134" ] ] "contieneResumen" => array:1 [ "en" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Eleazar Chaib" "autores" => array:1 [ 0 => array:2 [ "nombre" => "Eleazar" "apellidos" => "Chaib" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1807593222028538?idApp=UINPBA00004N" "url" => "/18075932/0000006300000001/v1_202212060857/S1807593222028538/v1_202212060857/en/main.assets" ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Neuroacanthocytosis" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:1 [ "paginaInicial" => "135" ] ] "autores" => array:3 [ 0 => array:3 [ "autoresLista" => "Adrian Danek" "autores" => array:1 [ 0 => array:3 [ "preGrado" => "M.D" "nombre" => "Adrian" "apellidos" => "Danek" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München, Germany" "identificador" => "af1" ] ] ] 1 => array:3 [ "autoresLista" => "Benedikt Bader" "autores" => array:1 [ 0 => array:3 [ "preGrado" => "M.D" "nombre" => "Benedikt" "apellidos" => "Bader" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Zentrum für Neuropathologie und Prionforschung, Ludwig-Maximilians-Universität, München, Germany" "identificador" => "af2" ] ] ] 2 => array:3 [ "autoresLista" => "Ruth H. Walker" "autores" => array:1 [ 0 => array:3 [ "preGrado" => "M.B., Ch.B., Ph.D" "nombre" => "Ruth H." "apellidos" => "Walker" ] ] "afiliaciones" => array:2 [ 0 => array:2 [ "entidad" => "Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY" "identificador" => "af3" ] 1 => array:2 [ "entidad" => "Mount Sinai School of Medicine, New York, NY" "identificador" => "af4" ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="para10" class="elsevierStylePara elsevierViewall">To the Editors;</p><p id="para20" class="elsevierStylePara elsevierViewall">With great initial interest we read the report of brothers with a neuroacanthocytosis syndrome<a class="elsevierStyleCrossRef" href="#bib1">1</a> but were later disappointed by the unmentioned fact that the details of the cases are identical to those of a previous publication by the senior author<a class="elsevierStyleCrossRef" href="#bib2">2</a>. Despite the time interval of 22 years since that original paper, the only significant additions in this duplicate publication are the color video stills and the figure of the brain MRI. Figure 1, of a peripheral blood smear with acanthocytes, was already made available to the public in an online medical resource<a class="elsevierStyleCrossRef" href="#bib3">3</a> (<a href="http://www.emedicine.com">www.emedicine.com</a>) and the connection with the present cases remains unclear. There is a hint that <span class="elsevierStyleItalic">post mortem</span> examination may have been performed as a further new fact. This, however, is mentioned only very briefly and could also be read as a reference to general knowledge about the neuropathological findings in neuroacanthocytosis syndromes. The argument of keeping an open mind for differential diagnosis that may have driven Lakhan and Gross to discuss these cases again is somewhat trivial.</p><p id="para30" class="elsevierStylePara elsevierViewall">Although the erythrocyte Kell antigen results mentioned by the authors suggest that their patients did not have the McLeod neuroacanthocytosis syndrome, for confirmation of the suspected diagnosis of chorea-acanthocytosis (MIM 200150) it would have been of great interest to perform genetic analysis<a class="elsevierStyleCrossRef" href="#bib4">4</a> or the Western blot test for chorein<a class="elsevierStyleCrossRef" href="#bib5">5</a>, which is now available through the support of the Advocacy for Neuroacanthocytosis patients (<a href="http://www.naadvocacy.org">www.naadvocacy.org</a>).</p><p id="para40" class="elsevierStylePara elsevierViewall">Signed,</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:1 [ "nota" => "<p class="elsevierStyleNotepara" id="cenpara10"><span class="elsevierStyleBold">Editor’s note:</span> Having received this letter on December 18<span class="elsevierStyleSup">th</span>, 2007, Clinics immediately wrote to Dr. SE Lakhan, about this apparent duplication, and received (on December 19<span class="elsevierStyleSup">th</span>) an e-mail in which Dr. Lakhan stated that:</p> <p class="elsevierStyleNotepara" id="cenpara20">“…our report submitted to your journal is a clinical practice piece with brief literature review of neuroacanthocytosis. It weaves the special case of the 46 year old Hispanic with this disease, however, not to introduce a novel presentation of a disease per se, but to demonstrate the workup and differential of such a presentation.”</p> <p class="elsevierStyleNotepara" id="cenpara30">Having thus established positive communication, Clinics forwarded the full text of this letter to Dr. Lakham on December 21<span class="elsevierStyleSup">st</span>, with an offer to add as Discussion any comments he might wish to add to the matter. To include such comments in this issue we established January 7<span class="elsevierStyleSup">th</span>, 2008 as a deadline to receive his comments.</p> <p class="elsevierStyleNotepara" id="cenpara40">Having not heard from Dr. Lakham, we understand that the content of this letter stands unopposed and that CLINICS owes an apology to its readers for unintentionally publishing what must be described as an outright duplication of previously published material. The 22 year interval between original and duplicate publications in a way excuses our reviewers for overlooking the previously published report.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "REFERENCES" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "cebibsec10" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Progressive neuroacanthocytosis in brothers: a case report" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => """ SE Lakhan \n \t\t\t\t\t\t\t\t """ 1 => """ K Gross \n \t\t\t\t\t\t\t\t """ ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1590/s1807-59322007000500025" "Revista" => array:6 [ "tituloSerie" => "Clinics" "fecha" => "2007" "volumen" => "62" "paginaInicial" => "665" "paginaFinal" => "668" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/17952335" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib2" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => """ KB Gross \n \t\t\t\t\t\t\t\t """ 1 => """ JA Skrivanek \n \t\t\t\t\t\t\t\t """ 2 => """ KC Carlson \n \t\t\t\t\t\t\t\t """ 3 => """ DM Kaufman \n \t\t\t\t\t\t\t\t """ ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1001/archneur.1985.04210090017005" "Revista" => array:6 [ "tituloSerie" => "Arch Neurol" "fecha" => "1985" "volumen" => "42" "paginaInicial" => "753" "paginaFinal" => "756" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/4026606" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib3" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:1 [ "host" => array:1 [ 0 => array:1 [ "WWW" => array:1 [ "link" => "http://www.emedicine.com/ped/images/Large/703blood20-1.jpg" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib4" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutational spectrum of the <span class="elsevierStyleItalic">CHAC</span> gene in patients with chorea-acanthocytosis" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => """ C Dobson-Stone \n \t\t\t\t\t\t\t\t """ 1 => """ A Danek \n \t\t\t\t\t\t\t\t """ 2 => """ L Rampoldi \n \t\t\t\t\t\t\t\t """ ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/sj.ejhg.5200866" "Revista" => array:6 [ "tituloSerie" => "Eur J Hum Genet" "fecha" => "2002" "volumen" => "10" "paginaInicial" => "773" "paginaFinal" => "781" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12404112" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib5" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular genetic and protein diagnosis of chorea-acanthocytosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => """ C Dobson-Stone \n \t\t\t\t\t\t\t\t """ 1 => """ A Velayos-Baeza \n \t\t\t\t\t\t\t\t """ 2 => """ A Monaco \n \t\t\t\t\t\t\t\t """ ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Mov Disord" "fecha" => "2005" "volumen" => "20" "paginaInicial" => "1677" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/18075932/0000006300000001/v1_202212060857/S180759322202854X/v1_202212060857/en/main.assets" "Apartado" => null "PDF" => "https://static.elsevier.es/multimedia/18075932/0000006300000001/v1_202212060857/S180759322202854X/v1_202212060857/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S180759322202854X?idApp=UINPBA00004N" ]
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