Literature DB >> 18297217

Neuroacanthocytosis.

Adrian Danek, Benedikt Bader, Ruth H Walker.   

Abstract

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Year:  2008        PMID: 18297217      PMCID: PMC2664194          DOI: 10.1590/s1807-59322008000100021

Source DB:  PubMed          Journal:  Clinics (Sao Paulo)        ISSN: 1807-5932            Impact factor:   2.365


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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,
  3 in total

1.  Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Authors:  C Dobson-Stone; A Danek; L Rampoldi; R J Hardie; R M Chalmers; N W Wood; S Bohlega; M T Dotti; A Federico; M Shizuka; M Tanaka; M Watanabe; Y Ikeda; M Brin; L G Goldfarb; B I Karp; S Mohiddin; L Fananapazir; A Storch; A E Fryer; P Maddison; I Sibon; P C Trevisol-Bittencourt; C Singer; I R Caballero; J O Aasly; K Schmierer; R Dengler; L-P Hiersemenzel; M Zeviani; V Meiner; A Lossos; S Johnson; F C Mercado; G Sorrentino; N Dupré; G A Rouleau; J Volkmann; J Arpa; A Lees; G Geraud; S Chouinard; A Németh; A P Monaco
Journal:  Eur J Hum Genet       Date:  2002-11       Impact factor: 4.246

2.  Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations.

Authors:  K B Gross; J A Skrivanek; K C Carlson; D M Kaufman
Journal:  Arch Neurol       Date:  1985-08

3.  Progressive neuroacanthocytosis in brothers: a case report.

Authors:  Shaheen E Lakhan; Kenneth Gross
Journal:  Clinics (Sao Paulo)       Date:  2007-10       Impact factor: 2.365

  3 in total

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