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Neurology. 2002 Jun 11;58(11):1686-9.

Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

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Diagnostic Radiology, Department of Clinical Pathophysiology, University of Florence, Viale Morgagni 85, 50134 Florence, Italy.


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.

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