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. Author manuscript; available in PMC: 2014 Oct 13.
Published in final edited form as: FASEB J. 2013 May 16;27(9):3424–3429. doi: 10.1096/fj.12-223842

Table 1. Genetic synucleinopathies.

Gene Protein Phenotype Pathology Inheritance Mutations
SNCA α-Synuclein PD, DLB LB Dominant Point mutations (A53T, A30P, E46K, H50Q, and G51D), gene multiplications
GBA GBA GD, PD LB Dominant Point mutations (numerous described, most common L444P and N370S)
LRRK2 LRRK2 PD Pleiomorphic, mostly LB Dominant Point mutations (N1437H, R1441G/C, Y1699C, G2019S, and I2020T)
ATP13a2 ATP13a2 KRS, NCL Unknown Recessive Truncations
VPS35 VPS35 PD Unknown Dominant Point mutation (D620N)

• ATP13a2, ATPase 13a2; DLB, dementia with Lewy bodies; GBA, glucocerebrosidase; GD, Gaucher’s disease; KRS, Kufor-Rakeb syndrome; LRRK2, leucine-rich repeat kinase 2; NCL, neuronal ceroid lipofuscinosis; SNCA, synuclein α; VPS35, vacuolar protein sorting 35.