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- W2034080216 abstract "Unverricht–Lundborg disease is an autosomal recessive degenerative disorder (21q22.3)1,2 that begins age 6 to 15 with tonic-clonic seizures and myoclonus, and gradually progresses to include dysarthria, cognitive dysfunction, and ataxia. Most patients live long, disabled adult life spans with the average onset of disability 5 years after diagnosis.3In response to an earlier case report4 suggesting dramatic improvement in tremor, somatosensory evoked potentials, and overall disability in a sibship with Unverricht–Lundborg disease, we treated a genetically confirmed patient who had moderately advanced disease with N -acetylcysteine (NAC) and were able to replicate similar improvements in ambulation and myoclonus. In this patient, we also documented a significantly reduced generalized seizure frequency and improved verbal output. The benefits have been sustained for 10 months.The patient is now a 40-year-old, left-handed man with a long history of genetically confirmed Unverricht–Lundborg disease. He has no predisposing factors for epilepsy except two second cousins with nonprogressive, …" @default.
- W2034080216 created "2016-06-24" @default.
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- W2034080216 date "1999-01-01" @default.
- W2034080216 modified "2023-10-06" @default.
- W2034080216 title "N-acetylcysteine therapy for Unverricht-Lundborg disease" @default.
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- W2034080216 doi "https://doi.org/10.1212/wnl.52.2.426" @default.
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