We showed the results of pathological and genetic investigation for an autopsy case who was evaluated as longstanding Parkinson’s disease (PD) in alive. Neuropathological investigation showed “pure nigropathy” without Lewy and tau pathology, and genetic analyses using next-generation sequencing detected novel TUBA4A nonsence mutation. Subsequent physiological study added to strength the hypothesis that the variant is pathogenic one. Present case showed TUBA4A is not only responsible gene for amyotrophic lateral sclerosis/frontotemporal dementia but also PD associated pure nigropathy. Also we found minimal but significant tau pathology high possibly associated with long-term deep brain stimulation in subthalamic nucleus.

中文翻译：

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TUBA4A无义突变纯黑质病尸检一例

我们展示了一个尸检病例的病理和遗传调查结果，该病例被评估为存活的长期帕金森病 (PD)。神经病理学调查显示没有 Lewy 和 tau 病理学的“纯黑质病”，使用下一代测序的基因分析检测到新的 TUBA4A 无义突变。随后的生理学研究增加了该变异是致病性变异的假设。本病例显示TUBA4A不仅是肌萎缩侧索硬化/额颞叶痴呆的负责基因，也是PD相关的纯黑质病。我们还发现最小但显着的 tau 病理学可能与丘脑底核中的长期深部脑刺激有关。