Presenter Information

Brenna Beezhold

Start Date

2021

Description

  • Parkinson’s disease (PD) is the most common neurodegenerative movement disorder
  • Patients experience rigidity, tremor, and bradykinesia
  • Due to a loss of dopaminergic neurons in the substantia nigra
  • Accumulation of α-synuclein Lewy bodies
  • Genetic risks include: LRRK2 and GBA1
  • GBA1 is a mutation within gene coding for Gcase (Glucocerebrosidase) which is a lipid hydrolase within the lysosome, leading to a loss of function.
  • LRRK2 is a hyperactivation mutation in the region coding for the enzyme Leucine Rich Repeat Kinase 23

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Jan 1st, 12:00 AM

Investigating the relationship between GCase and pathology in Parkinson’s disease

  • Parkinson’s disease (PD) is the most common neurodegenerative movement disorder
  • Patients experience rigidity, tremor, and bradykinesia
  • Due to a loss of dopaminergic neurons in the substantia nigra
  • Accumulation of α-synuclein Lewy bodies
  • Genetic risks include: LRRK2 and GBA1
  • GBA1 is a mutation within gene coding for Gcase (Glucocerebrosidase) which is a lipid hydrolase within the lysosome, leading to a loss of function.
  • LRRK2 is a hyperactivation mutation in the region coding for the enzyme Leucine Rich Repeat Kinase 23