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Updated: Jan 11, 2026

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在多重谷氨胺中神经退行症的分子特征是脊髓小脑缩症

Clévio Nóbrega1,2, Adriana Marcelo3, Ana Teresa Rajado3,4,5

  • 1Algarve Biomedical Center Research Institute (ABC-Ri), University of Algarve, Faro, Portugal. cdnobrega@ualg.pt.

Cell death & disease
|November 10, 2025
PubMed
概括

聚氨胺脊髓脑动症 (PolyQ SCAs) 是一种罕见的遗传性神经退行性疾病,是由基因突变引起的. 本综述将分子标志分类为初级,二级和末期事件,以指导治疗的发展.

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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
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