Source 20240722_182255

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Source Metadata

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Page labelPage 200 of 208
Navigation pathPipeline of GD & GBA-PD > GBA-PD > Mutation GBA-PD
SectionGBA-PD, GD, and α-Synuclein Pipeline
Uncertain spans2
Embedded images0
Related photos2

Headings

  • 2021 WORLDSymposium Ayuko Iverson, Narita Aya, Handover to Otake, GBA-PD penetrance, Mutation GBA-PD
  • 2021 WORLDSymposium Ayuko Iverson
  • Narita Aya (Iottori / Tottori univ)
  • Handover to Otake on GD
  • GBA-PD / Penetrance (LIFETIME)
  • Mutation GBA-PD
  • Classification
  • Three most common variants in decreasing order
  • Severe = cause GD type 3 = neuronopathic
  • Mild = cause GD type I = non-neuronopathic
  • Other risk variant (can’t be classified into mild or severe because these don’t cause GD)
  • Unknown function
  • Four major GBA variants in GBA-PD
  • Variant position table (hg38)
  • Postmortem of GBA-PD
  • Uncertain Spans

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