Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis
نویسندگان
چکیده
منابع مشابه
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
OBJECTIVE To determine the molecular nature of the neurological disease in the seminal family reported by Critchley et al in the 1960s, characterized by a hyperkinetic movement disorder and the appearance of acanthocytosis on peripheral blood smear. The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinc...
متن کاملEye movements in chorea-acanthocytosis.
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...
متن کاملChorea-acanthocytosis presenting as dystonia.
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 ...
متن کاملHyperCKemia 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...
متن کاملPsychiatric symptoms in a woman with chorea-acanthocytosis.
UNLABELLED Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of neuroacanthocytosis syndromes, a group of genetically defined diseases associated with progressiv...
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2014
ISSN: 2330-1619
DOI: 10.1002/mdc3.12117