Department of Neuroscience, Università Cattolica del Sacro Cuore-Sede di Roma, Largo F. Vito 1, 00168 Rome, Italy.
Neurology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, Italy.
Int J Mol Sci. 2023 Jan 22;24(3):2204. doi: 10.3390/ijms24032204.
Myotonic dystrophy type 1 (DM1), commonly known as Steinert's disease (OMIM #160900), is the most common muscular dystrophy among adults, caused by an unstable expansion of a CTG trinucleotide repeat in the 3' untranslated region (UTR) of . Besides skeletal muscle, central nervous system (CNS) involvement is one of the core manifestations of DM1, whose relevant cognitive, behavioral, and affective symptoms deeply affect quality of life of DM1 patients, and that, together with muscle and heart, may profoundly influence the global disease burden and overall prognosis. Therefore, CNS should be also included among the main targets for future therapeutic developments in DM1, and, in this regard, identifying a cost-effective, easily accessible, and sensitive diagnostic and monitoring biomarker of CNS involvement in DM1 represents a relevant issue to be addressed. In this mini review, we will discuss all the papers so far published exploring the usefulness of both cerebrospinal fluid (CSF) and blood-based biomarkers of CNS involvement in DM1. Globally, the results of these studies are quite consistent on the value of CSF and blood Neurofilament Light Chain (NfL) as a biomarker of CNS involvement, with less robust results regarding levels of tau protein or amyloid-beta.
肌强直性营养不良 1 型（DM1），通常称为 Steinert 病（OMIM #160900），是成人中最常见的肌肉营养不良症，由 3'非翻译区（UTR）中的 CTG 三核苷酸重复不稳定扩增引起。除了骨骼肌，中枢神经系统（CNS）受累是 DM1 的核心表现之一，其相关认知、行为和情感症状深深影响 DM1 患者的生活质量，与肌肉和心脏一起，可能会深刻影响全球疾病负担和整体预后。因此，CNS 也应该被包括在 DM1 未来治疗发展的主要目标中，在这方面，确定一种具有成本效益、易于获得和敏感的 CNS 受累的 DM1 诊断和监测生物标志物是一个需要解决的相关问题。在这篇迷你综述中，我们将讨论迄今为止发表的所有探讨 CSF 和基于血液的 DM1 中枢神经系统受累生物标志物有用性的论文。总的来说，这些研究的结果在 CSF 和血液神经丝轻链（NfL）作为 CNS 受累生物标志物的价值上非常一致，而关于tau 蛋白或淀粉样蛋白-β水平的结果则不太可靠。
