This 15-year-old girl, previously healthy and of normal early development, had progressive deterioration of gait and coordination normal motor and language development. At the age of 5 years, she started having difficulty with early-reading skills. After age 7 years, she developed hand tremor, balance problems with tripping, clumsiness, and difficulty moving her eyes quickly (needed to move her head to compensate). After the age of 9 years, she has developed generalized tonic-clonic seizures, with poor control with a growing regimen of antiepileptics and further decline in gait, coordination, school performance, and behavior.

Our patient had a progressive ataxia beginning in her early childhood. Family history of neurological disease was negative for three generations but a distant cousin died in early adulthood due to progressive neurologic disease. Her general examination, including chest and abdomen, was normal. Her neurologic examination demonstrated slightly brisk reflexes with normal sensation. An important feature on examination was the greatly reduced range of vertical and, to a lesser extent, horizontal saccades, which was overcome with oculocephalic maneuvers, consistent with supranuclear gaze palsy.