A MELAS (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES) MTDNA MUTATION THAT INDUCES SUBACUTE DEMENTIA WHICH MIMICS CREUTZFELDT-JAKOB-DISEASE

被引：13

作者：

ISOZUMI, K

FUKUUCHI, Y

TANAKA, K

NOGAWA, S

ISHIHARA, T

SAKUTA, R

机构：

[1] Department of Neurology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160

[2] Division of Ultrastructural Research, National Institute of Neuroscience, Kodaira

来源：

INTERNAL MEDICINE | 1994年 / 33卷 / 09期

关键词：

MITOCHONDRIAL MYOPATHY; ENCEPHALOPATHY; LACTIC ACIDOSIS; AND STROKE-LIKE EPISODES; PERIODIC SYNCHRONOUS DISCHARGES; MITOCHONDRIAL DNA;

D O I：

10.2169/internalmedicine.33.543

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：543 / 546

页数：4

共 14 条

[1]

Burger L.J., Rowan A.J., Goldensohn E.S., Arch Neurol, 26, (1972)

[2]

Editorials: Prion disease: spongiform encephalopathies unveiled, Lancet, 336, (1990)

[3]

Roos R., Gajdusek D.C., Gibbs J., The clinical characteristics of transmissible Creutzfeldt-Jakob disease, Brain, 96, (1973)

[4]

Goto Y., Nonaka I., Horai S., A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies, Nature, 348, (1990)

[5]

Byrne E., Trounce I., Dennett X., Gilligan B., Morley J.B., Marzuki S., Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies, J Neurol Sci, 88, (1988)

[6]

Goda S., Ishimoto S., Ohnishi A., Goto I., Kuroiwa Y., Mitochondrial encephalomyopathy: A case with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), Clin Neurol, 25, (1985)

[7]

Mizuno Y., Ishiguro K., Okamoto K., Et al., A case of mitochondrial encephalomyopathy characterized by repeated stroke-like episodes, Clin Neurol, 29

[8]

Yamamoto T., Beppu H., Tsubaki T., Mitochondrial encephalomyopathy: Fluctuating symptoms and CT, Neurology, 34, (1984)

[9]

Ohama E., Ohara S., Ikuta F., Tanaka K., Nishizawa M., Miyatake T., Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy, Acta Neuropathol (Berl), 74, (1987)

[10]

Sakuta R., Nonaka I., Vascular involvement in mitochondrial myopathy, Ann Neurol, 25, (1989)

← 1 2 →