NR AFWH
AU Isozumi,K.; Fukuuchi,Y.; Tanaka,K.; Nogawa,S.; Ishihara,T.; Sakuta,R.
TI A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease
QU Internal Medicine 1994 Sep; 33(9): 543-6
PT journal article
AB 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.
MH Case Report; Creutzfeldt-Jakob Syndrome/diagnosis; DNA, Mitochondrial/genetics; Dementia/diagnosis; Diagnosis, Differential; Female; Human; MELAS Syndrome/diagnosis/*genetics/pathology; Middle Age; Point Mutation; RNA, Transfer, Leu/genetics
AD Department of Neurology, Keio University School of Medicine, Tokyo.
SP englisch
PO Japan