학술논문
Vertical supranuclear gaze palsy in Niemann-Pick type C disease.
Document Type
Article
Source
Subject
*NIEMANN-Pick diseases
*PSEUDOBULBAR paralysis
*GENETIC mutation
*MEDICAL statistics
*EYE movements
*NEURONS
*LONGITUDINAL method
*PATIENTS
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Language
ISSN
1590-1874
Abstract
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. [ABSTRACT FROM AUTHOR]