Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14)

Parkinsonism Relat Disord. 2017 Apr;37:111-113. doi: 10.1016/j.parkreldis.2017.01.005. Epub 2017 Jan 10.
No abstract available

Keywords: Dementia; Expanded phenotype; Hippocampal affection; PLA2G6.

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • Adult
  • Group VI Phospholipases A2 / genetics*
  • Hippocampus / diagnostic imaging
  • Hippocampus / pathology*
  • Humans
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Neurodegenerative Diseases / diagnostic imaging
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / physiopathology
  • Tomography, Emission-Computed, Single-Photon
  • Tropanes / pharmacokinetics

Substances

  • Tropanes
  • 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
  • Group VI Phospholipases A2
  • PLA2G6 protein, human