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Updated: May 11, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

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1型小鼠脊髓小脑缩症中的状病理:与亨廷顿病进行比较研究

Pragya Goel, Praseuth Yang, Lisa Duvick

    bioRxiv : the preprint server for biology
    |December 19, 2025
    PubMed
    概括

    1型脊髓小脑动症 (SCA1) 导致条状神经退行,影响中等脊髓神经元 (MSN). 这项研究揭示了SCA1小鼠条纹中的分子和细胞变化,突出了早期的功能缺陷和独特的ATXN1病理机制.

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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,...