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.
|Titolo:||Vertical supranuclear gaze palsy in Niemann-Pick type C disease.|
|Citazione:||Salsano, E., Umeh, C., Rufa, A., Pareyson, D., & Zee, D.s. (2012). Vertical supranuclear gaze palsy in Niemann-Pick type C disease. NEUROLOGICAL SCIENCES, 33(6), 1225-1232.|
|Appare nelle tipologie:||1.1 Articolo in rivista|