title: Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.
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.
authors.affiliation: Diagnostic Radiology, Department of Clinical Pathophysiology, University of Florence, Viale Morgagni 85, 50134 Florence, Italy. m.mascalchi@dfc.unifi.it
authors.forename: M
authors.initials: M
authors.lastname: Mascalchi
authors.forename: R
authors.initials: R
authors.lastname: Michelucci
authors.forename: M
authors.initials: M
authors.lastname: Cosottini
authors.forename: C
authors.initials: C
authors.lastname: Tessa
authors.forename: F
authors.initials: F
authors.lastname: Lolli
authors.forename: P
authors.initials: P
authors.lastname: Riguzzi
authors.forename: A E
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: M
authors.initials: M
authors.lastname: Tosetti
authors.forename: N
authors.initials: N
authors.lastname: Villari
authors.forename: C A
authors.initials: CA
authors.lastname: Tassinari
mesh_terms: D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001933:Brain Stem / Q000378:metabolism / Q000473:pathology*; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008526:Medulla Oblongata / Q000378:metabolism / Q000473:pathology; D011149:Pons / Q000378:metabolism / Q000473:pathology; D011522:Protons; D020194:Unverricht-Lundborg Syndrome / Q000378:metabolism / Q000473:pathology*
chemical_list: D011522:Protons; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline