Vertical supranuclear gaze palsy in Niemann-Pick type C disease


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.

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Fig. 1



Third cranial nerve


Fourth cranial nerve (trochlear nerve)


Frontal eye fields


Medial longitudinal fascicle


Dorsolateral pontine nucleus


Dorsal vermis


Inferior oblique


Inferior rectus


Middle temporal area


Medial superior temporal area


Niemann-Pick type C


Nucleus reticularis tegmenti pontis


Optokinetic nystagmus


Parietal eye fields


Paramedian pontine reticular formation


Rostral interstitial nuclei of the medial longitudinal fasciculus


Superior colliculi


Semicircular canals


Superior oblique


Smooth pursuit eye movements


Superior rectus


Vestibular nuclei


Vestibulo-ocular reflex


Ventral paraflocculus


Vertical supranuclear gaze palsy


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Conflict of interest

E. Salsano has been invited in meetings organized and sponsored by Actelion Pharmaceuticals Ltd; David S. Zee teaches in courses sponsored by Sun Pharma and Abbott Pharmaceuticals.

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Correspondence to Ettore Salsano.

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Salsano, E., Umeh, C., Rufa, A. et al. Vertical supranuclear gaze palsy in Niemann-Pick type C disease. Neurol Sci 33, 1225–1232 (2012).

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  • Niemann-Pick type C disease
  • Vertical eye movements
  • Vertical ocular motor apraxia
  • Vertical supranuclear gaze palsy