Gupta Deepak K, Blanco-Palmero Victor A, Chung Wendy K, Kuo Sheng-Han
Department of Neurology, Columbia University, New York, NY, USA.
Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Tremor Other Hyperkinet Mov (N Y). 2018 May 29;8:560. doi: 10.7916/D8XS7BGD. eCollection 2018.
Adult-onset Niemann-Pick Type C is a rare neurogenetic lysosomal disorder, whose diagnosis is often delayed and missed because of its heterogeneous clinical presentations and rarity as well as the lack of awareness of characteristic eye findings among neurologists.
Impaired smooth pursuits, saccades, and optokinetic nystagmus in the vertical direction, with relatively normal eye movements in the horizontal direction, and ataxia features on finger chase testing, tandem walking, and gait ataxia.
Impairment of vertical eye movements in combination with ataxia, cognitive impairment, and/or psychiatric symptoms in an adult patient should always raise clinical suspicion of Niemann-Pick Type C.
成人型尼曼-匹克C型病是一种罕见的神经遗传性溶酶体疾病，由于其临床表现异质性、罕见性以及神经科医生对特征性眼部表现认识不足，其诊断常常延迟或漏诊。
垂直方向的平稳跟踪、扫视和视动性眼球震颤受损，水平方向眼球运动相对正常，在手指追逐试验、串联行走和步态共济失调测试中有共济失调特征。
成年患者出现垂直眼球运动障碍并伴有共济失调、认知障碍和/或精神症状时，应始终引起对尼曼-匹克C型病的临床怀疑。
