Abstract
MRI of the brain and proton MRS ((1)H MRS) of the pons and dentate were obtained in 10 patients with genetically confirmed Unverricht-Lundborg disease (EPM1) and 20 control subjects. Patients with EPM1 showed (p < or = 0.01) loss of bulk of the basis pontis, medulla, and cerebellar hemispheres. Cerebral atrophy was present in six patients. The N-acetylaspartate/creatine and choline/creatine ratios were reduced in the pons but not in the dentate (p < or = 0.005). Brainstem involvement could play a role in pathophysiology of EPM1.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aspartic Acid / analogs & derivatives*
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Aspartic Acid / metabolism
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Brain Stem / metabolism
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Brain Stem / pathology*
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Cerebellum / metabolism
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Cerebellum / pathology
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Choline / metabolism
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Creatine / metabolism
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Female
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Humans
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Magnetic Resonance Imaging*
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Magnetic Resonance Spectroscopy*
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Male
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Medulla Oblongata / metabolism
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Medulla Oblongata / pathology
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Pons / metabolism
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Pons / pathology
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Protons
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Unverricht-Lundborg Syndrome / metabolism
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Unverricht-Lundborg Syndrome / pathology*
Substances
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Protons
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Aspartic Acid
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N-acetylaspartate
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Creatine
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Choline