期刊
JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY
卷 23, 期 4, 页码 243-259出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0891988710383573
关键词
genetics; Huntington disease; neurodegeneration
Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive features and with variable and diverse psychiatric disturbances. Following the discovery of the causative defect in the HTT gene in 1993, great advances in understanding the pathogenesis of HD have been made, yet no effective disease-modifying therapy has been identified. In this new era of HD research, we have seen the emergence of a number of large clinical trials, the systematic search for novel biomarkers and the recent initiation of the first pre-manifest HD clinical studies. In this review, we seek to provide an overview of the clinical and genetic features of HD together with a summary of clinical research at this time.
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