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[遗传性脊髓性肌萎缩症的变异性]

[Variability of hereditary spinal amyotrophies].

作者信息

Popoy'ian M D, Dubinskaia E E, Kabanova A E

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1979;79(3):276-82.

PMID:442895
Abstract

Under conditions of the former isolate in 13 patients from 8 families hereditary spinal amyotrophy of adults was revealed, which is not in compliance to any other forms of this disease. The disease manifests in several generations of families at the age of 30--40 years in the form of anterior horn lesion to the cervical level in combination with the moderate "bulbar" and pyramidal disorders. The development of the disease is slow. The main type of inneritance is dominant. Histological study of a lethal case demonstrated the anterior horn lesion and the secondary character of amyotrophy.

摘要

在对来自8个家族的13例患者进行先前分离株的检测时,发现了成人遗传性脊髓性肌萎缩症,这种病症不符合该疾病的任何其他形式。该疾病在家族中的几代人中表现出来,发病年龄在30至40岁,表现为颈段前角损害,并伴有中度“球麻痹”和锥体束征。疾病发展缓慢。主要遗传类型为显性遗传。对一例致死病例的组织学研究显示有前角损害以及肌萎缩的继发性特征。

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