Document Detail

Clinical Features, DYT1 Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran.
MedLine Citation:
PMID:  22487959     Owner:  NLM     Status:  Publisher    
Objective: To test Iranian patients with primary torsion dystonia to determine the frequency of 904-906 del GAG mutation in the DYT1 (TOR1A) gene and to investigate the genotype-phenotype association for this disease. Subjects and Methods: Sixty-three patients with primary dystonia were investigated. DNA was extracted from peripheral blood and these samples were subjected to PCR-sequencing for exon 5 of the DYT1 gene. Results: Of the 63 patients, 10 (15.9%) carried the triplet GAG deletion mutation; this is a high DYT1-positive rate in comparison with other populations and the type of dystonia in this positive group was generalized in all except 1. In our patients, limbs were the most severely involved site at the time of onset and in most cases it developed to generalized form. The majority of DYT1-positive cases showed higher leg onset (5 patients, 62.5%) in comparison with higher arm onset in negative patients (20 patients, 50%). Also, the progression to generalized dystonia in DYT1-positive patients was significantly higher than in DYT1-negative patients. The mean age at onset was 8.6 ± 1.6 years (7-12 years) in DYT1-positive patients, while mean age at onset in patients with no GAG deletion mutation was higher (15.7 ± 11.5 years). Conclusions: The DYT1 904-906 del GAG mutation is responsible for some of Iranian dystonia patients, and screening for the DYT1 deletion is significant in cases with the generalized type of primary dystonia. Also, patients with leg or arm onset at a younger age are more likely to be DYT1-positive among primary torsion dystonia cases.
Mohammad Taghi Akbari; Zahra Zand; Gholam Ali Shahidi; Mohammad Hamid
Related Documents :
21913809 - Elevated mean platelet volume is associated with impaired coronary microvascular functi...
22825369 - Pathologic accumulation of α-synuclein and aβ in parkinson disease patients with deme...
22865299 - Shorter peripheral blood telomeres are a potential biomarker for patients with advanced...
22072229 - Elevated soluble receptor for advanced glycation end product levels in patients with ac...
22035149 - Evolving electroanatomic substrate and intra-atrial reentrant tachycardia late after fo...
21645119 - Osteoporosis: an ignored complication of cvid.
23012689 - Statins reduce new-onset atrial fibrillation in a first-time myocardial infarction popu...
8794489 - Neurological frontal signs and neuropsychological deficits in schizophrenic patients.
8846749 - The early effects of intravenous l-propionyl carnitine on ulcerative trophic lesions of...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-4-06
Journal Detail:
Title:  Medical principles and practice : international journal of the Kuwait University, Health Science Centre     Volume:  -     ISSN:  1423-0151     ISO Abbreviation:  -     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-4-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8901334     Medline TA:  Med Princ Pract     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 S. Karger AG, Basel.
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Mechanism of nanoparticle formation from ternary coground phenytoin and its derivatives.
Next Document:  Direct Estimation of Carbaryl by Gas Liquid Chromatography with Nitrogen Phosphorus Detection.