Facial onset sensory and motor neuronopathy (FOSMN): pathology

Evidence-based neurology checklist on facial onset sensory and motor neuronopathy (fosmn): pathology: Genetic mutations OPND SOD1 TDP43 Pathological features Affected nuclei

Genetic mutations

  • OPND
  • SOD1
  • TDP43

Pathological features

Affected nuclei

References

  1. Vucic S, Tian D, Chong ST, Cudkowicz ME, Hedley-Whyte ET, Cros D. Facial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology. Brain 2006; 129:3384-3390.
  2. Vucic S, Stein TD, Hedley-Whyte ET, et al. FOSMN syndrome: novel insight into disease pathophysiology. Neurology 2012; 79:73-79.
  3. Ziso B, Williams T, Walters J, Jaiser S, Wieshmann U, Jacob A. FOSMN: Facial onset sensory motor neuronopathy. A 'benign' differential diagnosis to bulbar onset motor neuron disease. The first cohort from the UK. JNNP 2013; 84:e2.
  4. Broad R, Leigh PN. Recognising facial onset sensory motor neuronopathy syndrome: insight from six new cases. Pract Neurol 2015; 15:293-297. 
  5. Dalla Bella E, Rigamonti A, Mantero V, et al. Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis. JNNP 2014; 85:1009-1011.
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