metricas
covid
Buscar en
Clinics
Toda la web
Inicio Clinics Neuroacanthocytosis
Información de la revista
Vol. 63. Núm. 1.
Páginas 135 (febrero 2008)
Compartir
Compartir
Descargar PDF
Más opciones de artículo
Vol. 63. Núm. 1.
Páginas 135 (febrero 2008)
Letter to the Editor
Open Access
Neuroacanthocytosis
Visitas
649
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
Este artículo ha recibido

Under a Creative Commons license
Información del artículo
Texto completo
Bibliografía
Descargar PDF
Estadísticas
Texto completo

To the Editors;

With great initial interest we read the report of brothers with a neuroacanthocytosis syndrome1 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 author2. 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 resource3 (www.emedicine.com) and the connection with the present cases remains unclear. There is a hint that post mortem 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.

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 analysis4 or the Western blot test for chorein5, which is now available through the support of the Advocacy for Neuroacanthocytosis patients (www.naadvocacy.org).

Signed,

REFERENCES
[1]
SE Lakhan , K Gross .
Progressive neuroacanthocytosis in brothers: a case report.
[2]
KB Gross , JA Skrivanek , KC Carlson , DM Kaufman .
Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations.
[4]
C Dobson-Stone , A Danek , L Rampoldi , et al.
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Eur J Hum Genet, 10 (2002), pp. 773-781
[5]
C Dobson-Stone , A Velayos-Baeza , A Monaco .
Molecular genetic and protein diagnosis of chorea-acanthocytosis.
Mov Disord, 20 (2005), pp. 1677

Editor’s note: Having received this letter on December 18th, 2007, Clinics immediately wrote to Dr. SE Lakhan, about this apparent duplication, and received (on December 19th) an e-mail in which Dr. Lakhan stated that:

“…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.”

Having thus established positive communication, Clinics forwarded the full text of this letter to Dr. Lakham on December 21st, 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 7th, 2008 as a deadline to receive his comments.

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.

Copyright © 2008. CLINICS
Descargar PDF
Opciones de artículo
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos