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亨廷顿舞蹈症:发病机制、诊断与治疗

Huntington's disease: pathogenesis, diagnosis and treatment.

作者信息

Purdon S E, Mohr E, Ilivitsky V, Jones B D

机构信息

Department of Psychology and Psychiatry, University of Alberta, Alberta Hospital, Edmonton.

出版信息

J Psychiatry Neurosci. 1994 Nov;19(5):359-67.

Abstract

This review of the clinical features of Huntington's disease incorporates recent developments in pathophysiology, preclinical diagnosis and treatment. Although the mechanism initiating and guiding the cell destruction in this illness is currently unknown, the excitatory neurotoxin and the energy metabolism models may provide a valuable direction for future research. Similarly, although the precise relation between the neuroanatomical damage in Huntington's disease and the functional disability is not clear, applications of recently developed neural connection models have implicated a number of important brain-behavior associations. Preclinical diagnostic procedures have evolved through successive iterations that have each contributed to increased reliability. New functional brain imaging techniques are sure to add to this promising domain in the future. Preclinical diagnosis has been stimulated by the recent isolation of the Huntington's gene which has also rekindled awareness of the importance of informed genetic counselling and the inherent ethical dilemmas in genetic testing. Treatment approaches to Huntington's disease have been confined to palliative care with secondary symptom management and psychotherapeutic support. Experimental therapeutic strategies for the illness itself have had a rather disappointing record to date. Further developments in NMDA antagonism and neural cell grafting may provide some hope for the future.

摘要

本对亨廷顿舞蹈症临床特征的综述纳入了病理生理学、临床前诊断和治疗方面的最新进展。尽管引发和指导该疾病细胞破坏的机制目前尚不清楚,但兴奋性神经毒素和能量代谢模型可能为未来研究提供有价值的方向。同样,尽管亨廷顿舞蹈症的神经解剖损伤与功能残疾之间的确切关系尚不清楚,但最近开发的神经连接模型的应用揭示了一些重要的脑-行为关联。临床前诊断程序通过连续迭代不断发展,每次迭代都提高了可靠性。新的功能性脑成像技术肯定会在未来为这一有前景的领域增添助力。最近亨廷顿基因的分离推动了临床前诊断,这也重新唤起了人们对知情遗传咨询的重要性以及基因检测中固有伦理困境的认识。亨廷顿舞蹈症的治疗方法仅限于姑息治疗,包括对继发症状的管理和心理治疗支持。迄今为止,针对该疾病本身的实验性治疗策略记录相当令人失望。NMDA拮抗作用和神经细胞移植的进一步发展可能为未来带来一些希望。

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本文引用的文献

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Br Med J (Clin Res Ed). 1982 May 8;284(6326):1383-5. doi: 10.1136/bmj.284.6326.1383.
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Cerebellar atrophy in Huntington's disease.亨廷顿舞蹈病中的小脑萎缩
J Neurol Sci. 1981 Apr;50(1):147-57. doi: 10.1016/0022-510x(81)90049-6.

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