Vertical supranuclear gaze palsy in Niemann-Pick type C disease

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.

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Fig. 1

Abbreviations

III:

Third cranial nerve

IV:

Fourth cranial nerve (trochlear nerve)

FEF:

Frontal eye fields

MLF:

Medial longitudinal fascicle

DLPN:

Dorsolateral pontine nucleus

DV:

Dorsal vermis

IO:

Inferior oblique

IR:

Inferior rectus

MT:

Middle temporal area

MST:

Medial superior temporal area

NP-C:

Niemann-Pick type C

NRTP:

Nucleus reticularis tegmenti pontis

OKN:

Optokinetic nystagmus

PEF:

Parietal eye fields

PPRF:

Paramedian pontine reticular formation

riMLF:

Rostral interstitial nuclei of the medial longitudinal fasciculus

SC:

Superior colliculi

SCC:

Semicircular canals

SO:

Superior oblique

SPEM:

Smooth pursuit eye movements

SR:

Superior rectus

VN:

Vestibular nuclei

VOR:

Vestibulo-ocular reflex

VPF:

Ventral paraflocculus

VSGP:

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). https://doi.org/10.1007/s10072-012-1155-1

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Keywords

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