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.
Original language | English (US) |
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Pages (from-to) | 1225-1232 |
Number of pages | 8 |
Journal | Neurological Sciences |
Volume | 33 |
Issue number | 6 |
DOIs | |
State | Published - Mar 23 2012 |
Keywords
- Niemann-Pick type C disease
- Vertical eye movements
- Vertical ocular motor apraxia
- Vertical supranuclear gaze palsy
ASJC Scopus subject areas
- Dermatology
- Clinical Neurology
- Psychiatry and Mental health