Sensory-motor neuropathy in a case with SPG35: Expanding the phenotype

J Neurol Sci. 2017 Sep 15:380:98-100. doi: 10.1016/j.jns.2017.05.054. Epub 2017 May 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Brain / diagnostic imaging
  • Diagnosis, Differential
  • Female
  • Hereditary Sensory and Motor Neuropathy / diagnosis*
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Hereditary Sensory and Motor Neuropathy / physiopathology*
  • Humans
  • Mixed Function Oxygenases / deficiency*
  • Mixed Function Oxygenases / genetics*
  • Phenotype
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics
  • Spastic Paraplegia, Hereditary / physiopathology*

Substances

  • Mixed Function Oxygenases
  • fatty acid alpha-hydroxylase