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Motor neuron disease: Classification and nomenclature

机译:运动神经元疾病:分类和术语

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摘要

The classification and nomenclature of motor neuron disease, whether sporadic or familial, is confused. For example, both the sporadic and familial motor neuron diseases are phenotypically heterogeneous and, in familial ALS, phenotypic heterogeneity correlates only weakly with different underlying mutations in the SOD1 gene. We propose a classification which is based on underlying causative mechanisms, where these are known, but which also recognizes different clinical phenotypes when the cause is unknown. This classification is flexible, and allows reattribution of clinical syndromes when their causation is understood. Currently uncertain associations - for example, a possible association of ALS with cancer - are given tentative recognition in this classification. In addition, this new classification recognizes geographical clustering and descriptions of unusual motor neuron disorder phenotypes of unknown origin in different parts of the world.
机译:运动神经元疾病的分类和命名,无论是散发性还是家族性,都令人困惑。例如,散发性和家族性运动神经元疾病都是表型异质的,在家族性ALS中,表型异质性仅与SOD1基因中的不同基础突变弱相关。我们提出了一个分类,该分类基于已知的潜在病因机制,但当病因未知时,也可以识别不同的临床表型。这种分类是灵活的,并且当了解了临床症状的因果关系后,就可以对其重新分类。在这种分类中,暂时识别了目前不确定的关联,例如ALS与癌症的可能关联。此外,这种新分类还可以识别地理上的聚类和对世界各地未知来源的不寻常运动神经元疾病表型的描述。

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