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Neurology 2002;58:1686-1689
© 2002 American Academy of Neurology
Brief Communications

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

M. Mascalchi, MD PhD, R. Michelucci, MD, M. Cosottini, MD, C. Tessa, MD, F. Lolli, MD PhD, P. Riguzzi, MD, A. E. Lehesjoki, MD, M. Tosetti, PhD, N. Villari, MD and C. A. Tassinari, MD

From Diagnostic Radiology (Drs. Mascalchi, Tessa, and Villari), Department of Clinical Pathophysiology, University of Florence; Department of Neurological Sciences (Drs. Michelucci, Riguzzi, and Tassinari), Bellaria Hospital, University of Bologna; Neuroradiology (Dr. Cosottini), University of Pisa; Neurophysiopathology (Dr. Lolli), University of Florence; IRCCS Stella Maris (Dr. Tosetti), Pisa, Italy; and Department of Medical Genetics Dr. Lehesjoki), University of Helsinki, Finland.

Address correspondence and reprint requests to Dr. Mario Mascalchi, Sezione di Radiodiagnostica, Dipartimento di Fisiopatologia Clinica, Università di Firenze, Viale Morgagni 85, 50134 Firenze, Italy; e-mail: m.mascalchi{at}dfc.unifi.it

MRI of the brain and proton MRS (1H 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 <= 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 <= 0.005). Brainstem involvement could play a role in pathophysiology of EPM1.






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