Data from: Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy Body disease

Lorraine N. Clark, Robin Chan, Rong Cheng, Xinmin Liu, Naeun Park, Nancy Parmalee, Sergey Kisselev, Etty Cortes, Paola A. Torres, Gregory M. Pastores, Jean P. Vonsattel, Roy Alcalay, Karen Marder, Lawrence L. Honig, Stanley Fahn, Richard Mayeux, Michael Shelanski, Gilbert Di Paolo & Joseph H. Lee
Objective: Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis. Methods: We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 231 brain autopsies. Brain autopsies included neuropathologically defined LBD without Alzheimer Disease (AD) changes (n = 59), AD without significant LB pathology (n = 71), Alzheimer disease and lewy body variant...
1 citation reported since publication in 2016.
185 views reported since publication in 2016.

These counts follow the COUNTER Code of Practice, meaning that Internet robots and repeats within a certain time frame are excluded.
What does this mean?
49 downloads reported since publication in 2016.

These counts follow the COUNTER Code of Practice, meaning that Internet robots and repeats within a certain time frame are excluded.
What does this mean?