Title:Amyotrophic Lateral Sclerosis: A Genetic Point of View
Volume: 14
Issue: 8
Author(s): C. Carlesi, E. Caldarazzo Ienco, M. Mancuso and G. Siciliano
Affiliation:
关键词:
肌萎缩侧索硬化，痴呆，基因测试，全基因组关联，突变，表型，WES
摘要: In the last twenty years the rapid advances in neurogenetic have revolutionized not only the
molecular, pathological, inheritance but also the clinical concept of ALS.
Here we review the current genetic breakthrough in familial and sporadic ALS, considering how this knowledge
has allowed widening of the scenario on the possible pathogenic disease mechanisms and better
understanding of the relationship between the genetic, pathological and clinical subtypes.
