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3个非阿什肯纳兹犹太人家族中的常染色体隐性遗传性周围感觉神经病

Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families.

作者信息

Tamari I, Goodman R M, Sarova I, Hertz M, Adar R, Zvibach T

出版信息

J Med Genet. 1980 Dec;17(6):424-9. doi: 10.1136/jmg.17.6.424.

Abstract

Three unrelated Oriental Jewish families with a total of eight subjects with progressive hereditary sensory neuropathy are reported. The parents were all unaffected and because of parental consanguinity in each of the three families it is postulated that this rare neurological disorder is transmitted in an autosomal recessive manner. In one family both parents showed an abnormal response to pain stimulation with normal motor and sensory nerve conduction velocity. This response may be an expression of the carrier state for this hereditary disease. Only five other families (non-Jewish) have been reported as having this form of peripheral hereditary sensory neuropathy. These observations suggest that one type, the progressive form, of peripheral hereditary sensory neuropathy may be more common in Oriental Jews.

摘要

本文报告了三个无血缘关系的东方犹太家庭,共有八名患有进行性遗传性感觉神经病的患者。父母均未患病,由于这三个家庭中每个家庭都存在父母近亲结婚的情况,因此推测这种罕见的神经系统疾病是以常染色体隐性方式遗传的。在一个家庭中,父母双方对疼痛刺激均表现出异常反应,但运动和感觉神经传导速度正常。这种反应可能是这种遗传性疾病携带者状态的一种表现。据报道,仅有另外五个(非犹太)家庭患有这种形式的周围遗传性感觉神经病。这些观察结果表明,周围遗传性感觉神经病的一种类型,即进行性类型,在东方犹太人中可能更为常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31d2/1885915/e38759750377/jmedgene00128-0017-a.jpg

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