Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy

Autor: Besa Ziso, Tim L. Williams, R. Jon L. Walters, Stephan R. Jaiser, Johannes Attems, Udo C. Wieshmann, A.J. Larner, Anu Jacob
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Zdroj: Case Reports in Neurology, Vol 7, Iss 1, Pp 95-100 (2015)
Druh dokumentu: article
ISSN: 1662-680X
DOI: 10.1159/000381944
Popis: 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.
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