Parkinsonism with a double mutation p.L483P in GBA and p.S231P in LRRK2
following acute hypoxic insult
A novel double mutation, c.1448T>A (p.L483P, rs421016) in
GBA and c.691T>C (p.S231P, rs201332859) in LRRK2 was
identified in a 69-year-old man with Parkinsonism who first developed
bradykinesia and rigidity in neck at one month after acute hypoxia
insult during mountaineering.