title: A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease.
abstract: A 50-year-old woman with subacute dementia and brain atrophy on CT showed periodic synchronous discharge (PSD) on electroencephalogram (EEG) and myoclonus. She was initially suspected of suffering from Creutzfeldt-Jakob disease (CJD), but dramatically recovered over 5 months. Based on further investigations, the final diagnosis was mitochondrial encephalomyopathy with an A-to-G substitution at nucleotide position 3243 in mitochondrial DNA (mtDNA), commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This case suggests that patients suspected of suffering from CJD should be evaluated for mitochondrial encephalomyopathy.
authors.affiliation: Department of Neurology, Keio University School of Medicine, Tokyo.
authors.forename: K
authors.initials: K
authors.lastname: Isozumi
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuuchi
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Nogawa
authors.forename: T
authors.initials: T
authors.lastname: Ishihara
authors.forename: R
authors.initials: R
authors.lastname: Sakuta
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis; D004272:DNA, Mitochondrial / Q000235:genetics; D003704:Dementia / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu