Magnetic resonance spectroscopy study in basal ganglia of patients with myoclonic epilepsy with ragged-red fibers.
Abnormal magnetic resonance spectroscopic (MRS) signals in the basal ganglia may be one of the characteristics in mitochondrial disease. We report MRS study in a family with myoclonic epilepsy with ragged-red fibers (MERRF). Their MRS studies over the basal ganglia revealed decreased N-acetylaspartate/creatine ratio and increased choline/creatine ratio in the four symptomatic members, but normal in the two asymptomatic members. However, negative MRI study was found in all members of this family. Our report suggests that the increased choline/creatine ratio in basal ganglia MRS may be one of the early information to suspect MERRF disease.
Chuang
Chieh-Sen
CS
Department of Neurology, Changhua Christian Hospital, 135 Nanhsiao Street, Changhua, 500, Taiwan.
Lo
Man-Chi
MC
Lee
Kwo-Whei
KW
Liu
Chin-San
CS
D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D001921:Brain / Q000473:pathology; D053938:DNA Fragmentation; D006801:Humans; D017243:MERRF Syndrome / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length