西班牙儿童中的与ALS2相关的疾病。
ALS2-related disorders in Spanish children.
作者信息
Nogueira Enrique, Alarcón Juana, Garma Carmen, Paredes Cecilia
机构信息
Molecular Diagnostics Eurofins-Megalab, Hospital San Rafael, Madrid, Spain.
Genetics Service, Hospital La Zarzuela, Madrid, Spain.
出版信息
Neurol Sci. 2021 May;42(5):2091-2094. doi: 10.1007/s10072-020-04899-0. Epub 2021 Jan 7.
Abstract
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.
摘要
编码alsin蛋白的ALS2基因，因锥体束上运动神经元逆行性变性而导致神经疾病，以常染色体隐性方式遗传，并且呈现出一种临床连续谱，包括在此报道的三名西班牙儿童中发现的婴儿型进行性遗传性痉挛性截瘫。
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本文引用的文献
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