A Woman with Progressive Ataxia and Abnormal Eye Movements.

The association of young-adult-onset cerebellar ataxia, vertical supranuclear gaze palsy, bulbar dysfunction, and cognitive impairment suggest the diagnosis of NPC. SP 2 sp In our patient, molecular testing disclosed the homozygous variant NM 000271.4 ( I NPC1 i ): c.2292G>A;(Silent), classified as pathogenic, and confirmed the diagnosis. Ataxia, gaze palsy Keywords: ataxia; gaze palsy EN ataxia gaze palsy 397 398 2 04/05/22 20220401 NES 220401 A 28-year-old woman presented with progressive gait ataxia and speech impairment that started 7 years ago. [Extracted from the article]