Is FOSMN syndrome a form of ALS?

Facial onset sensory and  motor neuronopathy (FOSMN syndrome) is a rare neurodegnerative disorder of unknown etiology.  Clinically it may resemble ALS, albeit only in the motor component.  The marked sensory abnormalities, which dominate the phenotype in the early stages of the disease process, and the prolonged survival, clearly argue against an ALS phenotype.  In this issue of JNNP, heterozygous D90A SOD-1 mutations were reported in a single FOSMN patient.  The question remains as to whether this is a pathogenic mutation and whether there are other factors governing the expression of the genotype.  A point hat is underscored, however, is that genotypes are predisposing and not causative, with other factors clearly important in expressing the phenotype.




J Neurol Neurosurg Psychiatry 2014;85:1009-1011 doi:10.1136/jnnp-2013-307416
  • Neuromuscular

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis

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