Chorea-acanthocytosis presenting with schizophrenia symptoms as first symptoms
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چکیده
منابع مشابه
Chorea-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 ...
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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...
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...
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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 کاملHypothyroidism presenting with musculoskeletal symptoms.
The possibility of hypothyroidism should be considered in patients presenting with rheumatic pains of uncertain aetiology. While it is established that this condition can occasionally present with muscle weakness due to myopathy (Fessel, 1968), it is perhaps less well appreciated that muscle pain and stiffness may predominate over weakness, and in this paper nine hypothyroid patients who presen...
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ژورنال
عنوان ژورنال: Psychiatry and Clinical Neurosciences
سال: 2009
ISSN: 1323-1316
DOI: 10.1111/j.1440-1819.2008.01915.x