HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis
نویسندگان
چکیده
منابع مشابه
HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis.
This article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes as well as any distribution of modified material requires written permission. I: 0.1159/0 464390 lished online: March 07, 2017 © 2017 The Author(s) Published by S. Ka...
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PURPOSE To describe the eye movement abnormalities in patients with chorea-acanthocytosis (ChAc), a form of neuroacanthocytosis. This autosomal recessive, neurodegenerative disorder with aberrant erythrocyte morphology (acanthocytosis) is caused by mutations in the VPS13A gene. In contrast to Huntington's disease (for which ChAc has occasionally been mistaken), ocular involvement in ChAc has no...
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The aim of this article is to present two Slovenian chorea-acanthocytosis (ChAc) siblings with an unusual predominantly dystonic ChAc phenotype. For diagnostic purposes, the genomic DNA was screened for VPS13A mutations. Movement disorder was evaluated and scored according to the Dystonia Movement and Disability Scale (DMDS) in order to evaluate the effects of L-dopa on dystonia. Brain imaging ...
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Acanthocytes are a distinct structural (and functional) entity compared to echinocytes. The differential, however, is not always clear. A summary of morphologic characteristic to make a clear distinction is provided, using the blood of a rare neurologic disease with acanthocytic transformation of red blood cells.
متن کاملChorea-acanthocytosis: report of three cases from Iran.
Chorea-acanthocythosis (ChAc) is an inherited neurodegenerative disorder characterized by movement disorders, neuropsychiatric disturbances, neuropathy, myopathy, seizures and acanthocytosis accompanied by an elevated serum creatine kinase (CK) level. Its causative gene (VPS13A) produces chorein which is absent in ChAc patients as evaluated by Western blot assay. We report the first three Irani...
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ژورنال
عنوان ژورنال: Cellular Physiology and Biochemistry
سال: 2017
ISSN: 1015-8987,1421-9778
DOI: 10.1159/000464390