Abstract
Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann–Pick Type C
Highlights
A 30-year-old male with unremarkable birth history had poor coordination since childhood and below-average school performance
A.G, (N968S); both mutations have been reported in patients with a classical biochemical phenotype of Niemann–Pick type C (NPC).[1,2]
No mutations were detected in the NPC2 gene
Summary
A 30-year-old male with unremarkable birth history had poor coordination since childhood and below-average school performance. Ethics Statement: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided. At the age of 23, he developed memory difficulty, hand tremor, loss of hand dexterity, and imbalance with occasional falls.
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