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先天性髓鞘形成低下性神经病

Congenital hypomyelinating neuropathy.

作者信息

Harati Y, Butler I J

出版信息

J Neurol Neurosurg Psychiatry. 1985 Dec;48(12):1269-76. doi: 10.1136/jnnp.48.12.1269.

DOI:10.1136/jnnp.48.12.1269
PMID:4087003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1028613/
Abstract

Two patients with congenital hypomyelinating neuropathy are reported with details of sural nerve pathology. The resemblance of this condition to the hypomyelinating neuropathy of Trembler mice is discussed and the pertinent medical literature reviewed.

摘要

报告了两名先天性髓鞘形成不足性神经病患者，并详细介绍了腓肠神经病理学情况。讨论了这种病症与震颤小鼠的髓鞘形成不足性神经病的相似之处，并对相关医学文献进行了综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/262743fb165a/jnnpsyc00116-0081-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/02b3e292064e/jnnpsyc00116-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/a2b8aa4444a1/jnnpsyc00116-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/b21ae26afb08/jnnpsyc00116-0078-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/5ac7def03633/jnnpsyc00116-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/8b6f4389c1d5/jnnpsyc00116-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/262743fb165a/jnnpsyc00116-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/523f36883416/jnnpsyc00116-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/02b3e292064e/jnnpsyc00116-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/a2b8aa4444a1/jnnpsyc00116-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/b21ae26afb08/jnnpsyc00116-0078-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/5ac7def03633/jnnpsyc00116-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/8b6f4389c1d5/jnnpsyc00116-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/031f/1028613/262743fb165a/jnnpsyc00116-0081-a.jpg

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Congenital hypomyelinating neuropathy.先天性髓鞘形成低下性神经病
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引用本文的文献

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Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.人类 CNTNAP1 相关先天性髓鞘生成不良神经病的小鼠模型和小鼠神经缺陷的基因修复。
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Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.先天性脱髓鞘性多发性神经病金毛猎犬中的 MTMR2、MPZ 和 SH3TC2 变体的犬模型。
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本文引用的文献

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Congenital hypomyelination neuropathy: glial bundles in cranial and spinal nerve roots.先天性髓鞘形成不足性神经病：颅神经和脊神经根中的胶质束。
Ann Neurol. 1981 Dec;10(6):570-3. doi: 10.1002/ana.410100614.
2
Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life.先天性髓鞘形成减少性多发性神经病。与后天发病的多发性神经病相比的病理结果。
Brain. 1982 Jun;105(Pt 2):395-416. doi: 10.1093/brain/105.2.395.
3
Congenital hypomyelination neuropathy in a newborn.一名新生儿的先天性髓鞘形成不足性神经病
Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy.
诊断一个有误导性线索的松软新生儿：原来是先天性发育不良性神经病。
BMJ Case Rep. 2022 Jan 20;15(1):e247555. doi: 10.1136/bcr-2021-247555.
4
Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.先天性低髓鞘性神经病震颤-J纯合子小鼠模型中神经肌肉接头的结构和功能异常
J Neuropathol Exp Neurol. 2016 Apr;75(4):334-46. doi: 10.1093/jnen/nlw004. Epub 2016 Feb 25.
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Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression.外周髓鞘的维持是一个需要持续表达Krox20的动态过程。
J Neurosci. 2006 Sep 20;26(38):9771-9. doi: 10.1523/JNEUROSCI.0716-06.2006.
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Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.常染色体显性遗传性脱髓鞘型夏科-马里-图斯病的分子遗传学
Neuromolecular Med. 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43.
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Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.姜黄素治疗可消除与导致神经病变的髓鞘蛋白零截短突变体相关的内质网滞留和聚集诱导的细胞凋亡。
Am J Hum Genet. 2005 Nov;77(5):841-50. doi: 10.1086/497541. Epub 2005 Sep 30.
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Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.成人型德热里纳-索塔斯综合征：遗传和形态学异质性概述及25例患者随访
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P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves.P(0)糖蛋白过表达导致周围神经先天性髓鞘形成低下。
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Acta Neuropathol. 1987;74(2):197-201. doi: 10.1007/BF00692853.
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Acta Neuropathol. 1981;55(1):39-46. doi: 10.1007/BF00691529.
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A case report of congenital hypomyelination.先天性髓鞘形成低下一例报告
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Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence.
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