Ziso Besa, Williams Tim L, Walters R Jon L, Jaiser Stephan R, Attems Johannes, Wieshmann Udo C, Larner A J, Jacob Anu
Department of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK.
Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, Swansea, UK.
Case Rep Neurol. 2015 Apr 23;7(1):95-100. doi: 10.1159/000381944. eCollection 2015 Jan-Apr.
Three patients with the clinical and investigation features of facial onset sensory and motor neuronopathy (FOSMN) syndrome are presented, one of whom came to a post-mortem examination. This showed TDP-43-positive inclusions in the bulbar and spinal motor neurones as well as in the trigeminal nerve nuclei, consistent with a neurodegenerative pathogenesis. These data support the idea that at least some FOSMN cases fall within the spectrum of the TDP-43 proteinopathies, and represent a focal form of this pathology.
本文报告了3例具有面部起病的感觉和运动神经元病（FOSMN）综合征临床及检查特征的患者，其中1例进行了尸检。尸检显示延髓和脊髓运动神经元以及三叉神经核中有TDP-43阳性包涵体，符合神经退行性病变的发病机制。这些数据支持以下观点，即至少部分FOSMN病例属于TDP-43蛋白病的范畴，并代表了这种病理的一种局灶性形式。
