title: Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.
abstract: This chapter focuses on neurodevelopmental diseases that are tightly linked to abnormal function of the striatum and connected structures. We begin with an overview of three representative diseases in which striatal dysfunction plays a key role--Tourette syndrome and obsessive-compulsive disorder, Rett's syndrome, and primary dystonia. These diseases highlight distinct etiologies that disrupt striatal integrity and function during development, and showcase the varied clinical manifestations of striatal dysfunction. We then review striatal organization and function, including evidence for striatal roles in online motor control/action selection, reinforcement learning, habit formation, and action sequencing. A key barrier to progress has been the relative lack of animal models of these diseases, though recently there has been considerable progress. We review these efforts, including their relative merits providing insight into disease pathogenesis, disease symptomatology, and basal ganglia function.
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Samuel S
authors.initials: SS
authors.lastname: Pappas
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Daniel K
authors.initials: DK
authors.lastname: Leventhal
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA; Michigan Alzheimer Disease Center, University of Michigan, Ann Arbor, Michigan, USA; Geriatrics Research, Education, and Clinical Center, VAAAHS, Ann Arbor, Michigan, USA.
authors.forename: Roger L
authors.initials: RL
authors.lastname: Albin
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, USA. Electronic address: dauer@umich.edu.
authors.forename: William T
authors.initials: WT
authors.lastname: Dauer
mesh_terms: D000818:Animals; D003342:Corpus Striatum / Q000378:metabolism* / Q000503:physiopathology*; D004195:Disease Models, Animal; D020821:Dystonic Disorders / Q000503:physiopathology*; D006184:Habits; D051379:Mice; D008954:Models, Biological; D009771:Obsessive-Compulsive Disorder / Q000503:physiopathology*; D012054:Reinforcement, Psychology; D015518:Rett Syndrome / Q000503:physiopathology*; D005879:Tourette Syndrome / Q000503:physiopathology*
keywords: Basal ganglia; Development; Disease; Dystonia; Mouse model; OCD; Rett syndrome; Striatum; Tourette