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Neurol Sci. 2012 Dec;33(6):1225-32. doi: 10.1007/s10072-012-1155-1. Epub 2012 Jul 19.

Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Author information

1
Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milano, Italy. ettore.salsano@istituto-besta.it

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.

PMID:
22810120
DOI:
10.1007/s10072-012-1155-1
[Indexed for MEDLINE]

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