variation within the huntingtons disease gene influences normal brain structure在亨廷顿氏舞蹈症基因变异影响正常的大脑结构.pdfVIP

Variation within the Huntington’s Disease Gene Influences Normal Brain Structure ¨ 1 . 1,2,3. 4 4 4 Mark Muhlau * , Juliane Winkelmann , Dan Rujescu , Ina Giegling , Nikolaos Koutsouleris , 5 1 1 6 4 Christian Gaser , Milan Arsic , Adolph Weindl , Maximilian Reiser , Eva M. Meisenzahl ¨ ¨ ¨ ¨ 1 Department of Neurology, Technische Universitat Munchen, Munich, Germany, 2 Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany, 3 Institute of Human Genetics, Helmholtz Zentrum Munich, German Research Center for Environmental Health, Munich, Germany, 4 Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-University, Munich, Germany, 5 Department of Psychiatry, Friedrich-Schiller-University, Jena, Germany, 6 Department of Radiology, Ludwig-Maximilians-University, Munich, Germany Abstract Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington’s disease constitutes the most common example. Here, we test the hypothesis that variation within the IT15 gene on chromosome 4, whose expansion causes Huntington’s disease, influences normal human brain structure. In 278 normal subjects, we determined CAG repeat length within the IT15 gene on chromosome 4 and analyzed high-resolution T1-weighted magnetic resonance images by the use of voxel-based