Table 1.

Summary of the most common GBA-PD mutations.

Mutation	Penetrance of Mutation	Location of Mutation	Effect on GCase	GD	GBA-PD	References
N370S	0.08–71.8%	Interface of domains II and III	Loss of GCase activity Activation of the UPR Alpha-synuclein pathology	Generally mild, non-neuronopathic GD	Lower disease penetrance and a milder clinical phenotype	[5,6,7,40,47,52,73,80,83,84,85,86,87,88,89,90,91,92,93]
L444P	0.06–18.8%	Domain II	Loss of GCase activity Activation of the UPR Alpha-synuclein pathology	Generally severe, neuronopathic GD	Higher disease penetrance and a worse clinical phenotype	[5,6,7,40,47,52,73,80,83,87,88,89,90,91,92,94,95,96]
E326K	2.8–3.88%	Surface of domain III	Reduces GCase activity to a lesser extent than GD-causing mutations	No clinical manifestation	Worse clinical phenotype	[44,73,74,75,79,80,93,97,98,99,100,101,102,103,104]