Parkinsonism with a double mutation p.L483P in GBA and p.S231P in LRRK2 following acute hypoxic insult

Yuting Tang; Lijian Wei; Zhuohua Wu; Pingyi Xu; Mingshu Mo

doi:10.22541/au.165477962.27162983/v1

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Parkinsonism with a double mutation p.L483P in GBA and p.S231P in LRRK2 following acute hypoxic insult

Yuting Tang,
Lijian Wei,
Zhuohua Wu,
Pingyi Xu,
Mingshu Mo

Abstract

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.