title: Huntington's disease: clinical presentation and treatment.
abstract: Huntington's disease (HD) is a devastating inherited neurodegenerative disease characterized primarily by progressive motor, cognitive, and psychiatric symptoms. It is caused by autosomal dominant inheritance of an expanded CAG repeat within the Huntington's gene on chromosome 4. In this chapter, we characterize the typical and variant motor phenotypes of the disease and then proceed to describe the cognitive and psychiatric profile. We then give an overview of a suggested multidisciplinary approach to the management of HD, emphasizing the fact that it is a disease which impacts on entire families rather than affecting individuals in isolation. We then describe the pharmacological and nonpharmacological options available for management of specific symptoms.
authors: The National Hospital for Neurology and Neurosurgery, London, UK.
authors: Marianne J U
authors: MJ
authors: Novak
authors: Sarah J
authors: SJ
authors: Tabrizi
mesh_terms: D003072:Cognition Disorders / Q000209:etiology; D003147:Communication Disorders / Q000209:etiology; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011618:Psychotic Disorders / Q000209:etiology; D012893:Sleep Wake Disorders / Q000209:etiology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins