Charcot-Marie-Tooth disease due to novel myelin protein zero mutation presenting as late-onset remitting sensory neuropathy.
We describe a previously asymptomatic patient who developed acute onset sensory symptoms which gradually resolved spontaneously. Neurologic examination revealed pes cavus, and motor nerve conduction studies were consistent with Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of a novel frameshift mutation within the transmembrane domain of the myelin protein zero gene (Leu144fs). This case suggests that this novel myelin protein zero mutation, as others reported previously, also results in a mild phenotype with late-onset neurologic symptoms and may be accompanied by remitting sensory disturbances.
Neuromuscular Clinic, Department of Neurology, University Hospitals of Leicester, Leicester, UK.
Benjamin S
BS
Simpson
Yusuf A
YA
Rajabally
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D009460:Neurologic Examination / Q000379:methods; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000503:physiopathology*
D018993:Myelin P0 Protein; D007930:Leucine