Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy.
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.
Department of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK.
Besa
B
Ziso
Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, Swansea, UK.
Tim L
TL
Williams
Department of Neurology, Morriston Hospital, Morriston, Swansea, UK.
R Jon L
RJ
Walters
Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, Swansea, UK.
Stephan R
SR
Jaiser
Department of Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, Swansea, UK.
Johannes
J
Attems
Department of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK.
Udo C
UC
Wieshmann
Department of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK.
A J
AJ
Larner
Department of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK.
Anu
A
Jacob
Facial onset sensory and motor neuronopathy; Motor neurone disease; TDP-43 proteinopathy