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Case Reports
. 2015 Apr 23;7(1):95-100.
doi: 10.1159/000381944. eCollection 2015 Jan-Apr.

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

Besa Ziso  1 , Tim L Williams  2 , R Jon L Walters  3 , Stephan R Jaiser  2 , Johannes Attems  4 , Udo C Wieshmann  1 , A J Larner  1 , Anu Jacob  1
Affiliations
Case Reports

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

Besa Ziso et al. Case Rep Neurol. .

Abstract

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.

Keywords: Facial onset sensory and motor neuronopathy; Motor neurone disease; TDP-43 proteinopathy.

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Figures

Fig. 1
Fig. 1
Motor neurones in the spinal cord (a, ai, b, bi) and hypoglossal nucleus (c) of case 1. Immunohistochemistry for TDP-43 (a, ai, c) and p62 (b, bi). Physiological intranuclear TDP-43 staining (arrowhead in a) and pathological aggregations of phosphorylated TDP-43 (arrows in c) are seen, with strong intracytoplasmic extranuclear positivity for TDP-43 (ai) and p62 (bi). Original magnification: ×400 (a, b), ×600 (c); scale bars: 50 μm (a, b), 20 μm (c).
See this image and copyright information in PMC

References

    1. Vucic S, Tian D, Chong PS, et al. Facial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology. Brain. 2006;129:3384–3390. - PubMed
    1. Vucic S, Stein TD, Hedley-White ET, et al. FOSMN syndrome: novel insight into disease pathophysiology. Neurology. 2012;79:73–79. - PubMed
    1. Isoardo G, Troni W. Sporadic bulbospinal muscle atrophy with facial-onset sensory neuropathy. Muscle Nerve. 2008;37:659–662. - PubMed
    1. Hokonohara T, Shigeto H, Kawano Y, Ohyagi Y, Uehara M, Kira J. Facial onset sensory and motor neuronopathy (FOSMN) syndrome responding to immunotherapies. J Neurol Sci. 2008;275:157–158. - PubMed
    1. Fluchere F, Verschueren A, Cintas P, et al. Clinical features and follow-up of four new cases of facial-onset sensory and motor neuronopathy. Muscle Nerve. 2011;43:136–140. - PubMed

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