Case Report

Neuro-acanthocytosis: Report of two cases

Volume: 59 Number: 1 March 13, 2020
  • Hüseyin Nezih Özdemir *
  • Ahmet Gökçay
  • Figen Gökçay
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Neuro-acanthocytosis: Report of two cases

Abstract

Neuro-acanthocytosis (NA), an umbrella term for a group of rare diseases characterized by misshapen erythrocytes (acanthocytes) and neuronal multisystem pathology. Clinical features include choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional features including myopathy, axonal neuropathy and seizures. Herein we report two cases - a 42-year-old woman and a 28-year-old man - from Turkey presented with heterogenous courses of neuro-acanthocytosis.

Keywords

References

  1. Jung H, Danek A,Walker RH. Neuroacanthocytosis Syndromes. Orphanet J Rare Dis. 2011; 6: 68.
  2. Peikert A, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Eur J Med Genet. 2018; 61 (11); 699-705.
  3. Baeza VA, Dobson-Stone C, Rampoldi L, et al. Chorea-Acanthocytosis. GeneReviews [serial on the internet]. 2014 [cited 20 Feb 2019]. Avaible from https://www.ncbi.nlm.nih.gov/books/NBK1387/
  4. Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015; 5: 346.

Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Case Report

Authors

Hüseyin Nezih Özdemir *
0000-0002-0651-7276
Türkiye

Ahmet Gökçay
0000-0003-1617-7698
Türkiye

Figen Gökçay
0000-0003-4870-3154
Türkiye

Publication Date

March 13, 2020

Submission Date

January 26, 2019

Acceptance Date

March 29, 2019

Published in Issue

Year 1970 Volume: 59 Number: 1

DOI

https://doi.org/10.19161/etd.698519

IZ

https://izlik.org/JA56TB66SH

Cite

RIS / Bibtex
Vancouver
1.Hüseyin Nezih Özdemir, Ahmet Gökçay, Figen Gökçay. Neuro-acanthocytosis: Report of two cases. EJM. 2020 Mar. 1;59(1):64-6. doi:10.19161/etd.698519

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