Article
Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2018
Gupta Deepak K, Blanco-Palmero Victor A, Chung Wendy K, Kuo Sheng-Han
Abstract excerpt
Background: Adult-onset Niemann-Pick Type C is a rare neurogenetic lysosomal disorder, whose diagnosis is often delayed and missed because of its heterogeneous clinical presentations and rarity as well as the lack of awareness of characteristic eye findings among neurologists. Phenomenology Shown: Impaired smooth pursuits, saccades, and optokinetic nystagmus in the vertical direction, with relatively normal eye...
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