β-Glucocerebrosidase activity in GBA -linked Parkinson disease: The type of mutation matters

• Published in: Neurology Vol. 95; no. 6; p. e685
• Main Authors: Huh, Young Eun, Chiang, Ming Sum Ruby, Locascio, Joseph J, Liao, Zhixiang, Liu, Ganqiang, Choudhury, Karbi, Kuras, Yuliya I, Tuncali, Idil, Videnovic, Aleksandar, Hunt, Ann L, Schwarzschild, Michael A, Hung, Albert Y, Herrington, Todd M, Hayes, Michael T, Hyman, Bradley T, Wills, Anne-Marie, Gomperts, Stephen N, Growdon, John H, Sardi, Sergio Pablo, Scherzer, Clemens R
• Format: Journal Article
• Language: English
• Published: United States 11.08.2020
• Subjects: Aged; Aged, 80 and over; Cognition Disorders - etiology; Cross-Sectional Studies; Female; Follow-Up Studies; Genetic Association Studies; Glucosylceramidase - blood; Glucosylceramidase - genetics; Humans; Male; Middle Aged; Mutation; Neurologic Examination; Parkinson Disease - enzymology; Parkinson Disease - genetics; Parkinson Disease - physiopathology; Parkinson Disease - psychology; Quantitative Trait Loci; Severity of Illness Index

To test the relationship between clinically relevant types of mutations (none, risk variants, mild mutations, severe mutations) and β-glucocerebrosidase activity in patients with Parkinson disease (PD) in cross-sectional and longitudinal case-control studies. A total of 481 participants from the Har...