An impaired ability to look upward without raising the head is diagnostic of vertical supranuclear gaze palsy. This defect is associated with which of the following diseases?

Question

Quizplus · Accepted Answer

The Answer is E
EXPLANATION: The characteristic phenotypes associated with "classic" NPC disease are variable hepatosplenomegaly, progressive ataxia, dystonia, dementia, and vertical supranuclear gaze palsy (VSGP). These individuals will present in childhood and death will ensue by the second or third decade. Because of the variable clinical phenotypes of NPC disease it has been subdivided into 5 presentation classifications: perinatal, early infantile, late infantile, juvenile, and adult. VSGP is a characteristic neurological manifestation in NPC disease being found in virtually all juvenile and adult cases of the disease

An Impaired Ability to Look Upward Without Raising the Head