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进行性脑脊髓灰质炎样萎缩症——阿尔珀斯病。电子显微镜下可见巨大神经元线粒体结构紊乱。

Progressive cerebral poliodystrophy--Alpers' disease. Disorganized giant neuronal mitochondria on electron microscopy.

作者信息

Sandbank U, Lerman P

出版信息

J Neurol Neurosurg Psychiatry. 1972 Dec;35(6):749-55. doi: 10.1136/jnnp.35.6.749.

DOI:10.1136/jnnp.35.6.749
PMID:4647849
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC494177/
Abstract

Three siblings who suffered from progressive mental retardation, seizures, and rigidity showed degeneration of the cerebral cortex. This was manifested by severe to complete neuronal loss with astrogliosis and microgliosis. In one child a brain biopsy was performed at the age of 3 months. The only lesion found was large disorganized perinuclear mitochondria in the neurones. The possibility that the cerebral poliodystrophy is due to an inherited mitochondrial disorder is discussed.

摘要

三名患有进行性智力迟钝、癫痫发作和强直的兄弟姐妹出现了大脑皮质退化。这表现为严重至完全的神经元丧失，并伴有星形胶质细胞增生和小胶质细胞增生。在一名儿童3个月大时进行了脑活检。发现的唯一病变是神经元中核周线粒体大而紊乱。本文讨论了脑灰质营养不良是由遗传性线粒体疾病引起的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/6f259d64deb1/jnnpsyc00210-0004-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/91fd9c931151/jnnpsyc00210-0001-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/1e83a68946b9/jnnpsyc00210-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/308edf9449a4/jnnpsyc00210-0002-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/eaa98fb66ca4/jnnpsyc00210-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/f66a469d6508/jnnpsyc00210-0003-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/d95fa5cc9478/jnnpsyc00210-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/6f259d64deb1/jnnpsyc00210-0004-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/91fd9c931151/jnnpsyc00210-0001-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/1e83a68946b9/jnnpsyc00210-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/308edf9449a4/jnnpsyc00210-0002-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/eaa98fb66ca4/jnnpsyc00210-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/f66a469d6508/jnnpsyc00210-0003-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/d95fa5cc9478/jnnpsyc00210-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1afc/494177/6f259d64deb1/jnnpsyc00210-0004-b.jpg

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本文引用的文献

1
Familial degeneration of the cerebral gray matter in childhood with convulsions, myoclonus, spasticity, cerebellar ataxia, choreoathetosis, dementia, and death in status epilepticus; differentiation of infantile and juvenile types.儿童期脑灰质的家族性变性，伴有惊厥、肌阵挛、痉挛、小脑共济失调、舞蹈手足徐动症、痴呆以及癫痫持续状态下的死亡；婴儿型和少年型的鉴别。
J Pediatr. 1951 Jul;39(1):33-43. doi: 10.1016/s0022-3476(51)80278-6.
2
Electron microscopic changes in brain tissue of Syrian hamsters following acute hypoxia.叙利亚仓鼠急性缺氧后脑组织的电子显微镜观察变化
Aerosp Med. 1960 May;31:379-87.
3
A STUDY OF CHROMATOLYSIS IN DORSAL ROOT GANGLIA AT THE CELLULAR LEVEL.
[POLG基因新型复合杂合突变所致的阿尔珀斯-许滕洛赫尔综合征：一例报告]
Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):498-501. doi: 10.7499/j.issn.1008-8830.2017.05.003.
4
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team.阿尔珀斯-许滕洛赫尔综合征：多学科医疗团队的作用
J Multidiscip Healthc. 2016 Jul 26;9:323-33. doi: 10.2147/JMDH.S84900. eCollection 2016.
5
Alpers-Huttenlocher syndrome.阿尔珀斯-胡特恩洛赫勒综合征。
Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014.
6
Megamitochondria formation - physiology and pathology.巨型线粒体的形成——生理学与病理学
J Cell Mol Med. 2002 Oct-Dec;6(4):497-538. doi: 10.1111/j.1582-4934.2002.tb00452.x.
7
Progressive neuronal degeneration of childhood (Alpers syndrome) with hepatic cirrhosis.伴有肝硬化的儿童进行性神经元变性（阿尔珀斯综合征）
Eur J Pediatr. 1993 Mar;152(3):260-2. doi: 10.1007/BF01956158.
8
Neonatal encephalopathy with neuronal vacuolar degeneration.伴有神经元空泡变性的新生儿脑病
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9
Congenital Leigh's disease: panencephalomyelopathy and peripheral neuropathy.
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10
Positron emission tomography using pyruvate-1-11C in two cases of mitochondrial encephalomyopathy.使用丙酮酸-1-¹¹C正电子发射断层扫描对两例线粒体脑肌病患者的研究
Ann Nucl Med. 1989 Jul;3(2):103-9. doi: 10.1007/BF03164593.
背根神经节细胞水平的染色质溶解研究
J Neuropathol Exp Neurol. 1964 Jul;23:508-26. doi: 10.1097/00005072-196407000-00008.
4
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J Neuropathol Exp Neurol. 1964 Apr;23:209-52.
5
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Am J Dis Child. 1964 Jun;107:649-56.
6
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7
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8
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Acta Neuropathol. 1969 Jan 31;12(2):103-15. doi: 10.1007/BF00692500.