title: Huntington disease: pathogenesis and treatment.
abstract: Huntington disease (HD) is an autosomal dominant inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, culminating in death. It is caused by an expanded CAG repeat in the huntingtin gene. Even years before symptoms become overt, mutation carriers show subtle but progressive striatal and cerebral white matter atrophy by volumetric MRI. Although there is currently no direct treatment of HD, management options are available for several symptoms. A better understanding of HD pathogenesis, and more sophisticated clinical trials using newer biomarkers, may lead to meaningful treatments. This article reviews the current knowledge of HD pathogenesis and treatment.
authors.affiliation: Department of Neurology, University of Michigan, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address: pravd@med.umich.edu.
authors.forename: Praveen
authors.initials: P
authors.lastname: Dayalu
authors.affiliation: Department of Neurology, University of Michigan, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA; Neuroscience Research, Veterans Affairs Medical Center, 2215 Fuller Road, Ann Arbor, MI 48105, USA.
authors.forename: Roger L
authors.initials: RL
authors.lastname: Albin
mesh_terms: D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008279:Magnetic Resonance Imaging; D009419:Nerve Tissue Proteins / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins
keywords: Chorea; Huntingtin; Huntington; Neurodegeneration; Pathogenesis; Polyglutamine; Striatum; Treatment