Vertical supranuclear gaze palsy in Niemann-Pick type C disease

Ettore Salsano, Chizoba Umeh, Alessandra Rufa, Davide Pareyson, David S. Zee

Research output: Contribution to journalReview articlepeer-review

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 languageEnglish (US)
Pages (from-to)1225-1232
Number of pages8
JournalNeurological Sciences
Volume33
Issue number6
DOIs
StatePublished - 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

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