Facial onset sensory and motor neuronopathy (FOSMN): pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Facial onset sensory and motor neuronopathy (FOSMN): pathology. OPND, SOD1, TDP43. Fully referenced neurology checklist.
Genetic mutations
- OPND
- SOD1
- TDP43
Pathological features
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Affected nuclei
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References
- 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.
- Vucic S, Stein TD, Hedley-Whyte ET, et al. FOSMN syndrome: novel insight into disease pathophysiology. Neurology 2012; 79:73-79.
- 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.
- Broad R, Leigh PN. Recognising facial onset sensory motor neuronopathy syndrome: insight from six new cases. Pract Neurol 2015; 15:293-297.
- 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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