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Updated: Aug 7, 2026

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亨廷顿研究小组的神经心理学工作组:实施非运动诊断标准

Ciaran M Considine1, M Agustina Rossetti2, Victor A Del Bene3

  • 1Department of Neurology Vanderbilt University School of Medicine Nashville Tennessee USA.

Movement disorders clinical practice
|December 14, 2023
PubMed
概括

早期诊断亨廷顿病 (HD) 是至关重要的. 临床医生可以在运动症状出现前几年检测到的非运动症状,以改善HD患者的诊断和护理.

关键词:
亨廷顿病就是亨廷顿病.评估评估的评估评估的评估.诊断 诊断 诊断 诊断 诊断 诊断神经心理学神经心理学没有发动机的非发动机.

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...