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如何估计在亨廷顿病的身体组成. 一个横截面的,使用多频率生物阻抗的观察性研究

J Rivadeneyra-Posadas1, L Simón-Vicente2,1, D Castillo-Alvira3

  • 1Fundación Burgos por la Investigación de la Salud, Burgos, España.

Revista de neurologia
|December 19, 2023
PubMed
概括

多频生物电阻分析 (mfBIA) 准确评估亨廷顿病 (HD) 患者的身体组成. 这种便携式方法可靠地监测轻度至中度HD患者的营养状况,有助于临床护理和研究.

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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,...