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 journalArticle

31 Citations (Scopus)

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
Pages (from-to)1225-1232
Number of pages8
JournalNeurological Sciences
Volume33
Issue number6
DOIs
Publication statusPublished - Mar 23 2012

Fingerprint

Type C Niemann-Pick Disease
Paralysis
Laughter
Dissociative Disorders
Cataplexy
Smooth Pursuit
Vestibulo-Ocular Reflex
Saccades
Eye Movements
Neurons
Mutation
Genes

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology
  • Medicine(all)

Cite this

Vertical supranuclear gaze palsy in Niemann-Pick type C disease. / Salsano, Ettore; Umeh, Chizoba; Rufa, Alessandra; Pareyson, Davide; Zee, David S.

In: Neurological Sciences, Vol. 33, No. 6, 23.03.2012, p. 1225-1232.

Research output: Contribution to journalArticle

Salsano, Ettore ; Umeh, Chizoba ; Rufa, Alessandra ; Pareyson, Davide ; Zee, David S. / Vertical supranuclear gaze palsy in Niemann-Pick type C disease. In: Neurological Sciences. 2012 ; Vol. 33, No. 6. pp. 1225-1232.
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