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Dentatorubropallidoluysian Atrophy Presenting Progressive Cognitive Dysfunction as an Initial Symptom  

Park, Jong-Kyu (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital)
Ko, Ji-Ae (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital)
Park, Jeong-Ho (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital)
Lee, Tae-Kyeong (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital)
Sung, Ki-Bum (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital)
Park, Sun-Ah (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital)
Publication Information
Dementia and Neurocognitive Disorders / v.9, no.2, 2010 , pp. 64-68 More about this Journal
Abstract
A 50-yr-old woman presented with progressive cognitive impairment and later developed abnormal movements. Brain magnetic resonance imaging (MRI) showed diffuse atrophy of the cerebellum and brainstem and severe high signal intensities in the periventricular white matter on T2-weighted images. The genetic analysis confirmed the diagnosis of dentatorubropallidoluysian atrophy (DRPLA). DRPLA should be considered in a patient with family history who showed cognitive impairment alone for a substantial period and severe white matter involvement with diffuse atrophy on MRI.
Keywords
DRPLA; Cognitive symptoms; Atrophin-1;
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