Neurology · 2017 · 49 citations · 7 references
MedicineNeurologyPediatricsDysphagiaEpilepsyEyelid DisordersGait DisordersGait ImpairmentVisual ImpairmentCongenital Cardiac AnomaliesProgressive Gait DisturbanceUpper Eyelid PtosisWalking
A 58-year-old man developed progressive walking difficulty over 10 years. He had normal development and an unremarkable birth history. At age 30, he developed bilateral drooping eyelids with double vision. At age 48, he developed progressive gait unsteadiness, slurred speech, and swallowing difficulty. At age 55, he needed to walk with a cane. He did not have seizures, hearing loss, or memory impairment. He did not have any history of alcohol abuse or exposures to anticonvulsants. His mother has congenital cardiac disease and diabetes mellitus, and his sister has had epilepsy since childhood. His daughter is healthy.
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Molecular pathogenesis of polymerase gamma–related neurodegeneration
Charalampos Tzoulis, Gia Tuong Tran, Jonathan Coxhead et al. · Annals of Neurology · 2014 · 92 citations · Full text
Maria A Graziewicz, Rachelle J. Bienstock, William C. Copeland · Human Molecular Genetics · 2007 · 92 citations · Full text