Mitochondrial Encephalomyopathy with Elderly Onset of Psychiatric Disorder
نویسندگان
چکیده
منابع مشابه
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction
The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximatel...
متن کاملMutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed of six singletons and three siblings. All subjects manifested early-onset lactic acidemia, hypotonia, and developme...
متن کاملLate-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology
With interest we read Finsterer et al.'s response [1] to our manuscript ‘Case Report: 5 Year Follow-Up of Adult Late-OnsetMitochondrial Encephalomyopathy with Lactic Acid and Stroke-Like Episodes (MELAS)’ [2]. We have the following responses: Regarding the lack of theMRIfigure, theMRIwas performed at an outside hospital. As a result an MRI figure was not available despite efforts to the contrar...
متن کاملmitochondrial neurogastrointestinal encephalomyopathy (mngie)
mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...
متن کاملBiochemical studies in mitochondrial encephalomyopathy.
The alpha-keto acid dehydrogenase complex and its component enzymes, lactate dehydrogenase, pyruvate carboxylase, cytochrome c oxidase, succinate-cytochrome c reductase, NADH-cytochrome c reductase, and the concentration of cytochromes and enzymes of beta-oxidation in muscle from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes were studied and no ...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 2007
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.96.2536