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      Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

      Neurological Sciences

      epidemiology, physiopathology, Eye Movements, pathology, physiology, Humans, Nervous System Diseases, diagnosis, Niemann-Pick Disease, Type C, Supranuclear Palsy, Progressive, Animals, Brain

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          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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          Journal
          10.1007/s10072-012-1155-1
          22810120

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