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

Lookup NU author(s): Dr Timothy Williams, Dr Stephan Jaiser, Professor Johannes Attems


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© 2015 S. Karger AG, Basel. 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.

Publication metadata

Author(s): Ziso B, Williams TL, Walters RJL, Jaiser SR, Attems J, Wieshmann UC, Larner AJ, Jacob A

Publication type: Article

Publication status: Published

Journal: Case Reports in Neurology

Year: 2015

Volume: 7

Issue: 1

Pages: 95-100

Online publication date: 23/04/2015

Acceptance date: 01/01/1900

ISSN (electronic): 1662-680X

Publisher: S. Karger AG


DOI: 10.1159/000381944


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