Neuroacanthocytosis

LETTER TO THE EDITOR

Neuroacanthocytosis

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,

Adrian Danek, M.D,

Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München, Germany

Benedikt Bader, M.D.

Zentrum für Neuropathologie und Prionforschung, Ludwig-Maximilians-Universität, München, Germany

Ruth H. Walker, M.B., Ch.B., Ph.D

Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY and Mount Sinai School of Medicine, New York, NY

Editor´s note: Having received this letter on December 18^th, 2007, Clinics immediately wrote to Dr. SE Lakhan, about this apparent duplication, and received (on December 19^th) 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 21^st, 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^th, 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.

• 1. Lakhan SE, Gross K. Progressive neuroacanthocytosis in brothers: a case report. Clinics. 2007;62:665-668.
• 2. Gross KB, Skrivanek JA, Carlson KC, Kaufman DM. Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations. Arch Neurol. 1985;42:753-756.
• ³
  http://www.emedicine.com/ped/images/Large/703blood20-1.jpg
  » link
• 4. Dobson-Stone C, Danek A, Rampoldi L et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 2002;10:773-781.
• 5. Dobson-Stone C, Velayos-Baeza A, Monaco A. Molecular genetic and protein diagnosis of chorea-acanthocytosis. Mov Disord. 2005;20:1677.

Publication Dates

• Publication in this collection
  13 May 2008
• Date of issue
  2008