| Chorea-acanthocytosis: Report of Three Cases from Iran. | |
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MedLine Citation:
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PMID: 23199253 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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 Iranian patients whose disease has been confirmed by chorein Western blot. Our cases presented with heterogeneous courses of ChAc. A high sense of clinical awareness in approaching patients with deteriorating and/or multiple abnormal movements that are accompanied by other neurological signs such as neuropathy, myopathy, seizures and high serum CK level will support an early diagnosis of this disease. We also emphasize on the presence of axial flexion/extension spasms as a good clinical sign for narrowing differential diagnosis. |
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Authors:
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Siamak Karkheiran; Benedikt Bader; Mohammad Roohani; Adrian Danek; Gholam Ali Shahidi |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Archives of Iranian medicine Volume: 15 ISSN: 1029-2977 ISO Abbreviation: Arch Iran Med Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-12-03 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100889644 Medline TA: Arch Iran Med Country: Iran |
Other Details:
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Languages: eng Pagination: 780-2 Citation Subset: IM |
Affiliation:
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Movement Disorders Clinic, Rasool Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran. gshahidi@irimc.org. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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