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      Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India.

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          Abstract

          To identify the genetic modifier(s) that might alter the age at onset in Huntington's disease (HD) we have analyzed variations in GluR6 kainate receptor (GluR6), CA150 gene, Delta2642 and polymorphic CCG repeat variation in huntingtin (htt) gene in 77 HD patients and normal individuals. In addition, variation in the RAI1 gene was analyzed in 30 spinocerebellar ataxia (SCA2) patients and normal individuals to show the possible influence on the age at onset. Multiple regression analysis indicated that variation in GluR6 and CCG repeat genotype might explain 6.2% and 3.1%, respectively, of the variability in the age at onset in HD. Similar analysis with SCA2 patients indicated that RAI1 might explain about 13% of the variability in the age at onset. Specific alleles in GluR6 and CA150 locus were only observed in HD patients.

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          Author and article information

          Journal
          Neurosci Lett
          Neuroscience letters
          Elsevier BV
          0304-3940
          0304-3940
          Jul 17 2003
          : 345
          : 2
          Affiliations
          [1 ] Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, 1/AF Bidhan Nagar, Kolkata 700 064, India.
          Article
          S0304394003004361
          10.1016/s0304-3940(03)00436-1
          12821179
          924949be-6e20-4e09-9c29-5db71ed01dda
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