MOVEMENT-DISORDERS IN MITOCHONDRIAL MYOPATHIES - A STUDY OF 9 CASES WITH 2 AUTOPSY STUDIES

被引：62

作者：

TRUONG, DD ^{[1
]}

HARDING, AE ^{[1
]}

SCARAVILLI, F ^{[1
]}

SMITH, SJM ^{[1
]}

MORGANHUGHES, JA ^{[1
]}

MARSDEN, CD ^{[1
]}

机构：

[1] UNIV LONDON,DEPT CLIN NEUROL,LONDON,ENGLAND

来源：

MOVEMENT DISORDERS | 1990年 / 5卷 / 02期

关键词：

Chorea; Dystonia; Mitochondrial myopathy; Myoclonus; Olivopontocerebellar atrophy; Striatonigral degeneration;

D O I：

10.1002/mds.870050204

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Of 85 consecutive patients with mitochondrial myopathy, 29 had clinically significant central nervous system involvement. Nine of these had movement disorders that included dystonia, chorea, parkinsonism, and myoclonus. Autopsy studies of one patient with ataxia, dementia, and parkinsonism followed by dystonia showed the features of olivopontocerebellar atrophy with additional degenerative changes in the basal ganglia. Postmortem in a further case with myoclonus, deafness, muscle weakness, retinopathy, and ataxia showed symmetrical mineralisation of the striatopallidodentatal system. Copyright © 1990 Movement Disorder Society

引用

页码：109 / 117

页数：9

共 25 条

[1] Petty RKH, Harding AE, Morgan-Hughes JA, The clinical features of mitochondrial myopathy, Brain, 109, pp. 915-938, (1986)
[2] DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC, Mitochondrial myopathies, Ann Neurol, 17, pp. 521-538, (1985)
[3] Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T., Myoclonus epilepsy associated with ragged red fibers (mitochondrial abnormalities): disease entity or syndrome?, J Neurol Sci, 47, pp. 117-133, (1980)
[4] Berkovic SF, Andermann F, Carpenter S, Wolfe LS, Progressive myoclonus epilepsies: specific causes and diagnosis, N Engl J Med, 315, pp. 296-305, (1986)
[5] Kuriyama M, Umezaki H, Fukuda Y, Et al., Mitochondrial encephalomyopathy with lactate pyruvate elevation and brain infarction, Neurology, 34, pp. 72-77, (1984)
[6] Noer AS, Marzuki S, Trounce I, Byrne E., Mitochondrial DNA deletion in encephalomyopathy, Lancet, 2, pp. 1253-1254, (1988)
[7] Van Erwen PMM, Gabreels FJM, Ruitenbeek W, Renler WO, Fischer JC, Mitochondrial encephalomyopathy: association with an NADH dehydrogenase deficiency, Archives of Neurology, 44, pp. 775-778, (1987)
[8] Morgan-Hughes JA, Hayes DJ, Clark JB, Et al., Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain, Brain, 105, pp. 553-582, (1982)
[9] Holt IJ, Harding AE, Cooper JM, Et al., Mitochondrial myopathies: clinical and biochemical features in 30 cases with major deletions of muscle mitochondrial DNA, Ann Neurol, 26, pp. 699-708, (1989)
[10] Morgan-Hughes JA, Hayes DJ, Cooper M, Clark JB, Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain, Biochemical Society Transactions, 13, pp. 648-650, (1985)

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