Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy
oleh: Besa Ziso, Tim L. Williams, R. Jon L. Walters, Stephan R. Jaiser, Johannes Attems, Udo C. Wieshmann, A.J. Larner, Anu Jacob
| Format: | Article |
|---|---|
| Diterbitkan: | Karger Publishers 2015-04-01 |
Deskripsi
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.