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ALS2 -related disorders in Spanish children
Neurological Sciences ( IF 3.3 ) Pub Date : 2021-01-07 , DOI: 10.1007/s10072-020-04899-0
Enrique Nogueira 1, 2 , Juana Alarcón 3 , Carmen Garma 1, 2 , Cecilia Paredes 3
Affiliation  

ALS2 gene encoding for alsin protein is responsible for neurological disorders due to retrograde degeneration of the upper motor neurons of the pyramidal tracts, inherited in an autosomal recessive manner, and displaying a clinical continuum including the infantile ascending hereditary spastic paraplegiaidentified in three Spanish children presented here.



中文翻译:

西班牙儿童的 ALS2 相关疾病

编码 alsin 蛋白的ALS2基因导致神经系统疾病,这是由于锥体束上运动神经元的逆行变性,以常染色体隐性遗传方式遗传,并显示临床连续体,包括在此处介绍的三名西班牙儿童中发现的婴儿升序遗传性痉挛性截瘫.

更新日期:2021-01-07
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