title: Genetics and neuropathology of Huntington's disease.
abstract: Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder that prominently affects the basal ganglia, leading to affective, cognitive, behavioral and motor decline. The basis of HD is a CAG repeat expansion to >35 CAG in a gene that codes for a ubiquitous protein known as huntingtin, resulting in an expanded N-terminal polyglutamine tract. The size of the expansion is correlated with disease severity, with increasing CAG accelerating the age of onset. A variety of possibilities have been proposed as to the mechanism by which the mutation causes preferential injury to the basal ganglia. The present chapter provides a basic overview of the genetics and pathology of HD.
authors: Department of Anatomy & Neurobiology, The University of Tennessee Health Science Center, 855 Monroe Ave. Memphis, TN 38163, USA.
authors: Anton
authors: A
authors: Reiner
authors: Ioannis
authors: I
authors: Dragatsis
authors: Paula
authors: P
authors: Dietrich
mesh_terms: D001921:Brain / Q000473:pathology*; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins