脑深部刺激
帕金森病
突变
疾病
神经科学
医学
生物信息学
心理学
基因
遗传学
病理
生物
作者
Nina Asheim Birkeland,Viel Nyborg Carlsen,Sasha Gulati,Emil K. Gustavsson,Jan O. Aasly
标识
DOI:10.1016/j.parkreldis.2022.01.019
摘要
A patient with Parkinson's disease (PD) who was examined as a candidate for DBS was initially rejected due to extensive brain calcifications. Upon second opinion and planning of trajectories she underwent successful surgery. Genetic analyses identified a mutation in SLC20A2, a gene known to cause brain calcifications, but no mutation known to cause PD was found.
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