Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.
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.
Mascalchi
M
M
Diagnostic Radiology, Department of Clinical Pathophysiology, University of Florence, Viale Morgagni 85, 50134 Florence, Italy. m.mascalchi@dfc.unifi.it
Michelucci
R
R
Cosottini
M
M
Tessa
C
C
Lolli
F
F
Riguzzi
P
P
Lehesjoki
A E
AE
Tosetti
M
M
Villari
N
N
Tassinari
C A
CA
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*
D011522:Protons; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline