Document Detail

Chorea-acanthocytosis: Report of Three Cases from Iran.
MedLine Citation:
PMID:  23199253     Owner:  NLM     Status:  In-Data-Review    
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.
Siamak Karkheiran; Benedikt Bader; Mohammad Roohani; Adrian Danek; Gholam Ali Shahidi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of Iranian medicine     Volume:  15     ISSN:  1029-2977     ISO Abbreviation:  Arch Iran Med     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-03     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100889644     Medline TA:  Arch Iran Med     Country:  Iran    
Other Details:
Languages:  eng     Pagination:  780-2     Citation Subset:  IM    
Movement Disorders Clinic, Rasool Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran.
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