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.