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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Sequence analysis of the complete SLITRK1 gene in Austrian patients with Tourette's disorder
Alexander Zimprich1, Katharina Hatala, Franz Riederer
1Department of Neurology, Medical University of Vienna, Austria. alexander.zimprich@meduniwien.ac.at
Abstract:
Mutations in the gene SLITRK1 (Slit and Trk-like 1) have been reported in patients with Tourette's disorder (TD). We sequenced the entire SLITRK1 gene including the coding region the 5' and 3' untranslated region in 92 Austrian patients with TD. No nucleotide changes within the protein-coding region were identified. One patient was found to carry a variant within the 3' untranslated region (3383g>a), which was absent in 192 control individuals and which segregated in two additional family members with tic symptoms. In conclusion, our results provide no evidence for SLITRK1 playing a major role in TD.

