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Central neurogenetic signatures of the visuomotor integration system.
Bueichekú, Elisenda; Aznárez-Sanado, Maite; Diez, Ibai; d'Oleire Uquillas, Federico; Ortiz-Terán, Laura; Qureshi, Abid Y; Suñol, Maria; Basaia, Silvia; Ortiz-Terán, Elena; Pastor, Maria A; Sepulcre, Jorge.
Afiliación
  • Bueichekú E; Gordon Center for Medical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115.
  • Aznárez-Sanado M; Department of Basic Psychology, Clinical Psychology and Psychobiology, Jaume I University, 12071 Castelló de la Plana, Spain.
  • Diez I; Neuroimaging Laboratory, School of Medicine, University of Navarra, 31008 Pamplona, Spain.
  • d'Oleire Uquillas F; School of Education and Psychology, University of Navarra, 31008 Pamplona, Spain.
  • Ortiz-Terán L; Gordon Center for Medical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115.
  • Qureshi AY; Neurotechnology Laboratory, Health Department, Tecnalia, E-48160 Derio, Spain.
  • Suñol M; Princeton Neuroscience Institute, Princeton University, Princeton, NJ, 08540.
  • Basaia S; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129.
  • Ortiz-Terán E; Gordon Center for Medical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115.
  • Pastor MA; Department of Radiology, Brigham and Women's Hospital, Boston MA 02115.
  • Sepulcre J; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129.
Proc Natl Acad Sci U S A ; 117(12): 6836-6843, 2020 03 24.
Article en En | MEDLINE | ID: mdl-32144139
ABSTRACT
Visuomotor impairments characterize numerous neurological disorders and neurogenetic syndromes, such as autism spectrum disorder (ASD) and Dravet, Fragile X, Prader-Willi, Turner, and Williams syndromes. Despite recent advances in systems neuroscience, the biological basis underlying visuomotor functional impairments associated with these clinical conditions is poorly understood. In this study, we used neuroimaging connectomic approaches to map the visuomotor integration (VMI) system in the human brain and investigated the topology approximation of the VMI network to the Allen Human Brain Atlas, a whole-brain transcriptome-wide atlas of cortical genetic expression. We found the genetic expression of four genes-TBR1, SCN1A, MAGEL2, and CACNB4-to be prominently associated with visuomotor integrators in the human cortex. TBR1 gene transcripts, an ASD gene whose expression is related to neural development of the cortex and the hippocampus, showed a central spatial allocation within the VMI system. Our findings delineate gene expression traits underlying the VMI system in the human cortex, where specific genes, such as TBR1, are likely to play a central role in its neuronal organization, as well as on specific phenotypes of neurogenetic syndromes.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Corteza Visual / Canales de Calcio / Proteínas / Proteínas de Dominio T Box / Canal de Sodio Activado por Voltaje NAV1.1 / Trastornos del Neurodesarrollo / Corteza Motora Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Corteza Visual / Canales de Calcio / Proteínas / Proteínas de Dominio T Box / Canal de Sodio Activado por Voltaje NAV1.1 / Trastornos del Neurodesarrollo / Corteza Motora Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article