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- Title
Vertical supranuclear gaze palsy in Niemann-Pick type C disease.
- Authors
Salsano, Ettore; Umeh, Chizoba; Rufa, Alessandra; Pareyson, Davide; Zee, David
- 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.
- Subjects
NIEMANN-Pick diseases; PSEUDOBULBAR paralysis; GENETIC mutation; MEDICAL statistics; EYE movements; NEURONS; LONGITUDINAL method; PATIENTS
- Publication
Neurological Sciences, 2012, Vol 33, Issue 6, p1225
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-012-1155-1