Vertical supranuclear gaze palsy in Niemann-Pick type C disease

被引：48

作者：

Salsano, Ettore ^{[1
]}

Umeh, Chizoba ^{[2
]}

Rufa, Alessandra ^{[3
]}

Pareyson, Davide ^{[1
]}

Zee, David S. ^{[2
]}

机构：

[1] Ist Neurol Carlo Besta, Fdn IRCCS, Dept Clin Neurosci, I-20133 Milan, Italy

[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[3] Univ Siena, Dept Neurol Neurosurg & Behav Sci, I-53100 Siena, Italy

来源：

NEUROLOGICAL SCIENCES | 2012年 / 33卷 / 06期

关键词：

Niemann-Pick type C disease; Vertical eye movements; Vertical ocular motor apraxia; Vertical supranuclear gaze palsy; CEREBELLAR-ATAXIA; EYE-MOVEMENTS; BRAIN-STEM; FRONTOTEMPORAL DEMENTIA; PARKINSONISM; SACCADES; FEATURES; DEGENERATION; ATROPHY; OPHTHALMOPLEGIA;

D O I：

10.1007/s10072-012-1155-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Vertical supranuclear gaze palsy (VSGP) is a key clinical feature in patients with Niemann-Pick type C disease (NP-C), a rare, autosomal recessive, neuro-visceral disorder caused by mutations in either the NPC1 or NPC2 gene. VSGP is present in approximately 65 % of the cases and is, with gelastic cataplexy, an important risk indicator for NP-C. VSGP in NP-C is characterized by a paralysis of vertical saccades, especially downward, with the slow vertical eye movement systems (smooth pursuit and the vestibulo-ocular reflex) spared in the early phase of the disease. This dissociation is caused by a selective vulnerability of the neurons in the rostral interstitial nuclei of the medial longitudinal fasciculus (riMLF) in NP-C. Here we discuss VSGP in NP-C and how clinicians can best elicit this sign.

引用

页码：1225 / 1232

页数：8

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