Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C

被引：0

作者：

Parihar, Jasmine ^{[1
]}

Dash, Deepa ^{[1
]}

Aggarwal, Bhawana ^{[2
]}

Kabra, Madhulika ^{[2
]}

Rajan, Roopa ^{[1
]}

Vibha, Deepti ^{[1
]}

Singh, Rajesh Kumar ^{[1
]}

Bhatia, Rohit ^{[1
]}

Gupta, Neerja ^{[2
]}

Tripathi, Manjari ^{[1
]}

机构：

[1] All India Inst Med Sci, Dept Neurol, New Delhi, India

[2] All India Inst Med Sci, Dept Pediat, Div Genet, New Delhi, India

来源：

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES | 2022年 / 49卷 / 06期

关键词：

NPC1; NPC2; Movement disorders; Niemann-Pick; Dystonia; DIAGNOSIS;

D O I：

10.1017/cjn.2021.222

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4-17 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.

引用

页码：804 / 808

页数：5

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