使用基因面板诊断肌萎缩性侧索硬化症(als)

Margot Patricio da Silva Lemos, Marylha Ost Gomes, Gisele Siqueira Rocha, Leticia Karolini Walger Schultz
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引用次数: 0

摘要

肌萎缩性侧索硬化症(ALS)是运动神经元疾病(MND)最常见的形式,在成人和老年人中更为常见。本病的退行性过程病因复杂,与多种因素有关。其症状表现为位于大脑皮层的上运动神经元(LMN)和位于脑干和脊髓前角的下运动神经元(LMN)的连续丧失。它的诊断往往延迟,其预后是不利的。这项工作回顾了在书籍、虚拟图书馆和数据库等物理和电子媒体中安排的关于ALS和遗传小组测试的数据。本研究的结果表明,基因面板对肌萎缩性侧索硬化症患者非常重要,因为它可以具体评估与该疾病有关的基因及其可能的基因突变,此外还可以区分其遗传性和散发性。
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THE USE OF THE GENETIC PANEL TO DIAGNOSE AMYOTROPHIC LATERAL SCLEROSIS (ALS)
Amyotrophic Lateral Sclerosis (ALS) represents the most common form of Motor Neuron Disease (MND), which is more frequent in adults and the elderly. The degenerative process of this disease has a complex etiology and is related to several factors. Its symptoms develop from a successive loss of both upper motor neurons (LMN), located in the cerebral cortex, and lower motor neurons (LMN), located in the brainstem and anterior horn of the spinal cord. Its diagnosis is often delayed and its prognosis is not favorable. This work reviewed data on ALS and the Genetic Panel Test arranged in physical and electronic media such as books, virtual libraries and databases. The findings of this study indicate that the genetic panel is extremely important for patients with amyotrophic lateral sclerosis, since it allows the specific evaluation of the genes involved in this disease and their possible gene mutations, in addition to allowing the differentiation in their hereditary and sporadic.
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