Kayal Vijayakumar

Keywords cerebellar hypoplasia duplication-triplication CNV ataxia structural variant ATP6V0C inversion gene dosage Main text Childhood-onset neurodegenerative disorders comprise a heterogeneous group of rare conditions that present with progressive neurological and/or cognitive impairment.1 Features can include regression of motor or cognitive skills, seizures, behavioral changes, ataxia, spasticity, sensory deficits, and intellectual disability.

Section 1 A 20-year-old right-handed woman was seen in neurology clinic for evaluation of progressive unsteadiness. Her symptoms began at age 10, with clumsiness and frequent falls. Her toes gradually became clawed, requiring bilateral cavovarus foot corrective surgery. She reported no sensory symptoms or visual or sphincter disturbance. The patient's older brother had similar symptoms, as did both of her twin sisters, at age 12. There was no similar history in her parents' families.