Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient

Clin Neuropharmacol. 2020 Jul/Aug;43(4):121-122. doi: 10.1097/WNF.0000000000000392.

Abstract

Hereditary spastic paraplegia (HSP) is group of a rare neurodegenerative disorder with both genetically and clinically diverse neurologic features. Indeed, disease progression is varying greatly within the different forms and current treatment modalities are exclusively symptomatic for HSP. Tremor in HSP patients is only mentioned with rare case reports, so treatment option is lack in clinical ground. We reported a case of a HSP-15 girl with a previously reported novel mutation of SPG15 complained of a life disturbing tremor and topiramate as a drug therapy for tremor in our HSP patient.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Carrier Proteins / genetics*
  • Child
  • Female
  • Genetic Variation / genetics*
  • Humans
  • Spastic Paraplegia, Hereditary / drug therapy
  • Spastic Paraplegia, Hereditary / genetics
  • Topiramate / therapeutic use*
  • Tremor / drug therapy*
  • Tremor / genetics*

Substances

  • Anticonvulsants
  • Carrier Proteins
  • ZFYVE26 protein, human
  • Topiramate