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

Authors: Naiya, T.¹; Biswas, A.¹; Neogi, R.²; Datta, S.²; Misra, A. K.³; Das, S. K.³; Ray, K.²; Ray, J.¹

Source: Acta Neurologica Scandinavica, Volume 114, Number 3, September 2006 , pp. 210-215(6)

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Abstract:

Naiya T, Biswas A, Neogi R, Datta S, Misra AK, Das SK, Ray K, Ray J. Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients.

Acta Neurol Scand 2006: 114: 210-215. © Blackwell Munksgaard 2006. Objectives -

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 = 178) and controls (n = 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.

Keywords: DYT1; focal dystonia; primary dystonia; writer's cramp

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1600-0404.2006.00663.x

Affiliations: 1: S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India 2: Human Genetics & Genomics Division, Indian Institute of Chemical Biology, Kolkata, India 3: Bangur Institute of Neurology, Institute of Post-Graduate Medical Education and Research, Kolkata, India

Publication date: 2006-09-01

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

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