SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit

Parkinsonism Relat Disord. 2018 Feb:47:88-90. doi: 10.1016/j.parkreldis.2017.12.004. Epub 2017 Dec 11.

Abstract

We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7.

Keywords: Ataxia; Hereditary spastic paraplegias; Parkinsonism.

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • ATPases Associated with Diverse Cellular Activities / genetics*
  • Brain / diagnostic imaging
  • Brain / drug effects
  • Brain / metabolism
  • Dopamine / deficiency*
  • Dopamine Agents / therapeutic use*
  • Female
  • Humans
  • Levodopa / therapeutic use*
  • Metalloendopeptidases / genetics*
  • Middle Aged
  • Organotechnetium Compounds / pharmacokinetics
  • Parkinsonian Disorders / diagnostic imaging
  • Parkinsonian Disorders / drug therapy
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / metabolism
  • Tomography, Emission-Computed, Single-Photon
  • Tropanes / pharmacokinetics

Substances

  • Dopamine Agents
  • Organotechnetium Compounds
  • Tropanes
  • technetium Tc 99m TRODAT-1
  • Levodopa
  • Metalloendopeptidases
  • SPG7 protein, human
  • ATPases Associated with Diverse Cellular Activities
  • Dopamine