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伴有纹状体CT低密度影的家族性肌张力障碍和视力减退

Familial dystonia and visual failure with striatal CT lucencies.

作者信息

Marsden C D, Lang A E, Quinn N P, McDonald W I, Abdallat A, Nimri S

出版信息

J Neurol Neurosurg Psychiatry. 1986 May;49(5):500-9. doi: 10.1136/jnnp.49.5.500.

DOI:10.1136/jnnp.49.5.500
PMID:3711913
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1028803/
Abstract

A unique disorder is described in seven members of two families in whom dystonia was variably associated with subacute visual loss or asymptomatic optic atrophy, and striking bilateral symmetrical lucencies on CT scan, especially involving the putamen. It is possible that this is a variant of Leigh's disease. However, there were considerable differences between these patients and those with pathologically proven Leigh's disease. This condition must be excluded in all patients thought to have idiopathic dystonia, subacute visual failure similar to Leber's optic neuropathy, or a combination of these disorders.

摘要

在两个家族的七名成员中描述了一种独特的病症，其中肌张力障碍与亚急性视力丧失或无症状性视神经萎缩以及CT扫描上显著的双侧对称性透亮区（尤其是累及壳核）存在不同程度的关联。有可能这是 Leigh 病的一种变体。然而，这些患者与经病理证实的 Leigh 病患者之间存在相当大的差异。在所有被认为患有特发性肌张力障碍、类似于 Leber 视神经病变的亚急性视力衰竭或这些病症组合的患者中，都必须排除这种情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/d5fd5f85501d/jnnpsyc00097-0021-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/120f9aa71414/jnnpsyc00097-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/b70e70063226/jnnpsyc00097-0018-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/ceaafbe1d600/jnnpsyc00097-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/38f3b980fa05/jnnpsyc00097-0020-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/d5fd5f85501d/jnnpsyc00097-0021-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/120f9aa71414/jnnpsyc00097-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/b70e70063226/jnnpsyc00097-0018-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/ceaafbe1d600/jnnpsyc00097-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/38f3b980fa05/jnnpsyc00097-0020-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555d/1028803/d5fd5f85501d/jnnpsyc00097-0021-a.jpg

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引用本文的文献

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Adult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature.一名患有与线粒体DNA 14459G>A突变相关的非家族性儿童期起病的全身性肌张力障碍患者出现成人期双侧视神经病变：病例报告及文献复习
Neuroophthalmology. 2024 Sep 17;49(3):206-211. doi: 10.1080/01658107.2024.2405697. eCollection 2025.
2
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.线粒体ND3作为Leber遗传性视神经病变和肌张力障碍的新型致病基因。
Neurogenetics. 2009 Oct;10(4):337-45. doi: 10.1007/s10048-009-0194-0. Epub 2009 May 21.
3

本文引用的文献

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Subacute necrotizing encephalomyelopathy in an infant.一名婴儿的亚急性坏死性脑脊髓病
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迟发性家族性肌张力障碍：线粒体缺陷会引发整个基底神经节系统的弥漫性损伤过程吗？
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Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.利用线粒体转移杂种将复合体I缺陷归因于线粒体DNA编码的烟酰胺腺嘌呤二核苷酸脱氢酶亚基6基因突变（位于核苷酸对14459处），该突变导致Leber遗传性视神经病变和肌张力障碍。
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7
A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation.一种与腭肌阵挛、其他脑干体征、四肢轻瘫、共济失调和罗森塔尔纤维形成相关的家族性疾病。
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A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.烟酰胺腺嘌呤二核苷酸脱氢酶亚基6基因第14459核苷酸对处的线粒体DNA突变，与母系遗传的Leber遗传性视神经病变和肌张力障碍相关。
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Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.莱伯遗传性视神经病变：不同线粒体DNA突变的临床相关性
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10
Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.莱伯氏“加征”：莱伯遗传性视神经病变患者的神经学异常
J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):160-4. doi: 10.1136/jnnp.59.2.160.
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[Disseminated spongiosis of the brain evolving clinically by attacks in a Madagascan child; eventual relation with Wernicke's subacute encephalopathy].
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Combined lesions of basal ganglia, medulla oblongata, and spinal cord in a 10 year old boy.一名10岁男孩的基底神经节、延髓和脊髓联合病变。
Acta Paediatr (Stockh). 1956 Jul;45(4):396-414. doi: 10.1111/j.1651-2227.1956.tb06890.x.
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Injuries of basal ganglia following head trauma in children.儿童头部外伤后基底节区损伤
Childs Brain. 1980;7(3):113-23. doi: 10.1159/000119936.
7
Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease).亚急性坏死性脑脊髓病（ Leigh 病）的计算机断层扫描
Ann Neurol. 1981 Sep;10(3):268-71. doi: 10.1002/ana.410100313.
8
Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy.亚急性坏死性脑脊髓病中的丙酮酸脱羧酶缺乏症。
Arch Neurol. 1981 Aug;38(8):515-9. doi: 10.1001/archneur.1981.00510080077012.
9
Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.莱氏病成纤维细胞中丙酮酸脱氢酶的异常激活。
Neurology. 1982 May;32(5):555-8. doi: 10.1212/wnl.32.5.555.
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Acute neurological dysfunction associated with destructive lesions of the basal ganglia in children.儿童基底节区破坏性病变相关的急性神经功能障碍
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