MR imaging and proton MR spectroscopy in A-to-G substitution at nucleotide position 3243 of leucine transfer RNA.
MR imaging of the brain in a 38-year-old woman with maternally inherited diabetes and deafness (MIDD) showed extensive subcortical and basal ganglia high signal intensity on T2-weighted studies though she was neurologically asymptomatic. High-signal-intensity changes were also seen in the basal ganglia on T1-weighted studies. Proton MR spectroscopy showed increased lactate, an increased choline/creatine ratio, and a decreased N-acetylaspartate/creatine ratio. Our observations suggest that patients with MIDD may have subclinical neurologic dysfunction identifiable by proton MR spectroscopy.
Bowen
J
J
Department of Neurology, University of Washington, Seattle, USA.
Richards
T
T
Maravilla
K
K
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001479:Basal Ganglia / Q000473:pathology; D001483:Base Sequence / Q000235:genetics; D001921:Brain / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics; D012356:RNA, Transfer, Leu / Q000235:genetics*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu; D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline