Department of Neurology, Charité University Medicine, Berlin, Germany; Berlin Institute of Health, Berlin, Germany.
Department of Neurology, Charité University Medicine, Berlin, Germany; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.
Parkinsonism Relat Disord. 2022 Aug;101:96-98. doi: 10.1016/j.parkreldis.2022.07.004. Epub 2022 Jul 14.
Niemann-Pick type C (NPC) is a rare but treatable lysosomal disorder with heterogeneous clinical presentations including cognitive impairment, movement disorders and vertical gaze palsy. We illustrate five cases of genetically confirmed NPC and highlight backward leaning during gait as a relevant clinical sign and a useful diagnostic clue.
尼曼-匹克 C 型（NPC）是一种罕见但可治疗的溶酶体贮积症，具有异质性的临床表现，包括认知障碍、运动障碍和垂直凝视麻痹。我们展示了五例经基因证实的 NPC 病例，并强调了行走时向后倾斜是一个相关的临床特征和有用的诊断线索。
