García-Ribas G, Garay-Albizuri P, Stiauren-Fernández E S, Pérez-Trapote F, Zea-Sevilla M A
Hospital Universitario Ramón y Cajal, 28034 Madrid, España.
Hospital Universitario HM Sanchinarro, Madrid, España.
Rev Neurol. 2023 Dec 1;77(11):277-281. doi: 10.33588/rn.7711.2023290.
The detection by biomarkers of the pathophysiological and molecular processes involved in misfolding protein diseases making it possible to delineate the natural history of these processes. The great majority of protein misfolding diseases have a prolonged preclinical phase, in which the biological changes are patent. The clinical manifestations (i.e., phenotypes) do not have a univocal correspondence with the underlying pathology, despite the fact that pathological eponyms have been used for the description of the clinical syndromes, which has favored diagnostic inaccuracy. In order to perform an adequate clinical management, we must know the 3 planes that currently define the most common neurodegenerative processes. Diagnostic accuracy will be a prerequisite for new therapies aimed at modifying the course of brain protein misfolding diseases.
通过生物标志物检测参与蛋白质错误折叠疾病的病理生理和分子过程，使得描绘这些过程的自然史成为可能。绝大多数蛋白质错误折叠疾病都有一个漫长的临床前期阶段，在此阶段生物学变化很明显。尽管病理名称已被用于描述临床综合征，但临床表现（即表型）与潜在病理并没有明确的对应关系，这导致了诊断不准确。为了进行充分的临床管理，我们必须了解目前定义最常见神经退行性过程的三个层面。诊断准确性将是旨在改变脑蛋白质错误折叠疾病进程的新疗法的先决条件。
