期刊
BRAIN RESEARCH BULLETIN
卷 56, 期 3-4, 页码 233-238出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0361-9230(01)00648-7
关键词
predictive diagnosis; clinical history; onset symptoms
Huntington's disease's (HD) clinical history has not been defined yet. However, many aspects of the most confusing clinical stages, i.e., the first and last disease phases, including the symptom progression and the disease duration, have been better approached after discovery of the responsible gene. The existence of accurate genetic tests, available for affected and pre-symptomatic subjects (i.e., mutation carriers) and the possibility to study transgenic in vivo models, are actually helping us to understand some of the aspects of HD clinical presentation. HD may present with motor symptoms other than chorea, the psychiatric manifestations may represent part of the clinical picture and cognitive deterioration may occur very early in the disease and depend an early cortical involvement. Pre-onset studies are of crucial importance in understanding the temporal sequence of the clinical events. This is also very important for future therapeutic strategies in those diseases initiating late in the life, such as HD. (C) 2001 Elsevier Science Inc.
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