Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review

TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy

“…Facial onset sensory and motor neuronopathy (FOSMN) is a rare neuromuscular disorder characterized by progressive facial paresthesia with subsequent development of sensory and motor manifestations in a rostro-caudal distribution. 1 Although few reports have suggested the presence of a modest response to immunotherapy, 2 , 3 more recent evidence is supportive of a neurodegenerative process with TAR DNA-binding protein 43 (TDP-43/ TARDBP ) inclusions in sensory and motor brainstem nuclei. 4 In rare instances, FOSMN can also be associated with cognitive or personality changes with frontal cortex TDP-43 accumulation, 5 suggesting that FOSMN may be part of the amyotrophic lateral sclerosis and fronto-temporal dementia (ALS/FTD) spectrum.…”

“…Although some cases were found to carry genetic variants, the genetic landscape of the disease needs to be clarified. 1 …”