A rare case of SPG11 mutation with multiple sclerosis

Rev Neurol (Paris). 2016 Jun-Jul;172(6-7):389-91. doi: 10.1016/j.neurol.2016.03.006. Epub 2016 May 11.

Abstract

We describe a patient with SPG11 hereditary spastic paraplegia (HSP), who developed walking disorder in childhood. He presented three episodes of subacute gait disorders worsening between the age of 20 and 22 years. Brain and spinal MRI revealed multiple T2 hypersignal lesions, consistent with inflammatory lesions. Surprisingly, CSF analysis showed neither oligoclonal bands nor increased IgG index. He was dramatically improved by intravenous methylprednisolone. A relapsing-remitting multiple sclerosis (MS) was suspected. This is the first description of SPG11 HSP associated with MS.

Keywords: Demyelinating disease; Hereditary spastic paraplegia; Multiple sclerosis; SPG1; Spatacsin.

Publication types

  • Case Reports

MeSH terms

  • Administration, Intravenous
  • Gait Disorders, Neurologic / complications
  • Gait Disorders, Neurologic / diagnosis
  • Gait Disorders, Neurologic / drug therapy
  • Gait Disorders, Neurologic / genetics
  • Humans
  • Male
  • Methylprednisolone / administration & dosage
  • Multiple Sclerosis / complications*
  • Multiple Sclerosis / drug therapy
  • Multiple Sclerosis / genetics*
  • Mutation
  • Proteins / genetics*
  • Spastic Paraplegia, Hereditary / complications*
  • Spastic Paraplegia, Hereditary / drug therapy
  • Spastic Paraplegia, Hereditary / genetics
  • Young Adult

Substances

  • Proteins
  • SPG11 protein, human
  • Methylprednisolone