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髓磷脂缺乏症(md):Wistar大鼠中的一种神经学突变体。

Myelin deficiency (md): a neurologic mutant in the Wistar rat.

作者信息

Csiza C K, de Lahunta A

出版信息

Am J Pathol. 1979 Apr;95(1):215-24.

PMID:434110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2042295/
Abstract

Myelin deficiency (md), a newly discovered neurologic mutation in the Wistar rat, is transmitted by an X-linked, recessive lethal gene. Male rats are affected, and the first symptom is a head tremor recognizable at 12 to 15 days of age. The tremors become generalized within a few days and disappear when the animal is at rest. In the later stages, from 17 to 21 days of age, the slightest disturbance will precipitate a generalized seizure. Pups die within 30 days after birth. The only gross postmortem change is a gray color of the spinal cord instead of its normally white appearance. Microscopic findings reveal total lack of myelin formation at all levels of the central nervous system.

摘要

髓磷脂缺乏症(md)是在Wistar大鼠中新发现的一种神经学突变,由X连锁隐性致死基因传递。雄性大鼠受影响,首个症状是在12至15日龄时可识别的头部震颤。震颤在几天内变得全身性,动物休息时消失。在后期,即17至21日龄时,最轻微的干扰都会引发全身性癫痫发作。幼崽在出生后30天内死亡。唯一明显的死后变化是脊髓呈灰色而非正常的白色外观。显微镜检查结果显示中枢神经系统所有层面完全缺乏髓磷脂形成。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6df/2042295/7dbd81843056/amjpathol00242-0233-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6df/2042295/4b8eba12f2cd/amjpathol00242-0235-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6df/2042295/aa64dd57b150/amjpathol00242-0234-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6df/2042295/7dbd81843056/amjpathol00242-0233-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6df/2042295/4b8eba12f2cd/amjpathol00242-0235-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6df/2042295/aa64dd57b150/amjpathol00242-0234-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6df/2042295/7dbd81843056/amjpathol00242-0233-a.jpg

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本文引用的文献

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MUTANT MICE (QUAKING AND JIMPY) WITH DEFICIENT MYELINATION IN THE CENTRAL NERVOUS SYSTEM.中枢神经系统髓鞘形成缺陷的突变小鼠(震颤小鼠和吉皮小鼠)
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SCHILDER'S DISEASE (SUDANOPHILIC LEUCODYSTROPHY) IN FIVE MALE MEMBERS OF ONE FAMILY.
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