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Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

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Title Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients
 
Creator Naiya, T
Biswas, A
Neogi, R
Datta, S
Misra, A K
Das, S K
Ray, Kunal
Ray, J
 
Subject Molecular & Human Genetics
 
Description Dystonia is a common movement disorder. The purpose of
this study is to examine the relative distribution of the primary dystonia subtypes and identify mutation (s) in the DYT1 gene in Indian patients. Materials and methods – Primary dystonia patients (n ¼ 178) and controls (n ¼ 63), lacking any symptoms of the disease, were recruited for the study from eastern India. The nucleotide variants in
the DYT1 gene were identified by carrying out polymerase chain reaction, single stranded conformation polymorphism, and DNA sequencing. Results – Unlike other reports, pain and/or tremor was more common in our sporadic patients than in familial cases. Three reported and two novel changes were identified in this gene. The homozygous genotype (G,G) for a missense variant (c.646G > C; Asp216His) was significantly over-represented in the patients compared with controls (P < 0.05). However, the commonly reported
3 bp deletion (904–906delGAG) was not detected. Conclusion –Our results suggest that the DYT1 gene might have a limited role in causation of dystonia in the Indian population.
 
Date 2006
 
Type Article
PeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/402/1/ACTA_NEUROLOGICA_SCANDINAVICA%2C__114(3)%2C_210%2D215_[47].pdf
Naiya, T and Biswas, A and Neogi, R and Datta, S and Misra, A K and Das, S K and Ray, Kunal and Ray, J (2006) Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients. Acta Neurol Scand , 114 (3). pp. 210-215.
 
Relation http://dx.doi.org/10.1111/j.1600-0404.2006.00663.x
http://www.eprints.iicb.res.in/402/