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