Davidenko Alina, Bogomazova Alexandra, Illarioshkin Sergey, Lagarkova Maria
Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, 119435, Russia.
Lomonosov Moscow State University, Moscow, 119991, Russia.
Mol Neurobiol. 2025 May;62(5):5720-5729. doi: 10.1007/s12035-024-04645-z. Epub 2024 Nov 30.
Spinocerebellar ataxia type 17 (SCA17) is a hereditary neurodegenerative disorder characterized by progressive motor and cognitive decline, leading to severe disability and death. SCA17 is caused by a CAG repeat expansion mutation in the TBP gene, resulting in the production of an abnormally long polyglutamine tract, which classifies it as a polyglutamine disorder. At present, there is no effective treatment for SCA17, and existing therapies provide only symptomatic relief. While the exact pathogenic mechanisms of SCA17 remain unclear, the TBP mutation affects a well-characterized transcription factor, making it an ideal model for studying polyglutamine-related neurodegeneration. Here, we review the clinical features of SCA17 and explore proposed mechanisms of its pathogenesis.
17型脊髓小脑共济失调（SCA17）是一种遗传性神经退行性疾病，其特征为进行性运动和认知功能衰退，最终导致严重残疾和死亡。SCA17由TBP基因中的CAG重复序列扩增突变引起，导致产生异常长的多聚谷氨酰胺链，这使其被归类为多聚谷氨酰胺疾病。目前，尚无针对SCA17的有效治疗方法，现有疗法仅能缓解症状。虽然SCA17的确切致病机制尚不清楚，但TBP突变影响一种特征明确的转录因子，使其成为研究多聚谷氨酰胺相关神经退行性变的理想模型。在此，我们综述SCA17的临床特征，并探讨其发病机制的相关假说。
