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Updated: Apr 30, 2026

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泰拉莫-大脑功能连接的过渡性变化预示着亨廷顿的疾病

Melanie A Morrison, Jingwen Yao, Radhika Bhalerao

    medRxiv : the preprint server for health sciences
    |January 27, 2025
    PubMed
    概括

    在预先表现的亨廷顿病 (HD) 中,状脑小脑连接的过渡性变化发生. 这些发现表明,潜在的生物标志物可用于跟踪疾病进展,并为这种神经退行性疾病开发新的治疗策略.

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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...
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