期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 399, 期 -, 页码 217-226出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2019.02.030
关键词
Amyotrophic lateral sclerosis; Genetics; C9ORF72; SOD1; TDP-43; FUS; Classification
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways, invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but familial forms of the disease (FALS) constitute 10% of the cases. Since the first identification of a causative gene in the 1990s and with recent advances in genetics, more than twenty genes have now been linked to FALS. This increased number of genes led to a tremendous amount of research, clearly contributed to a better understanding of the pathophysiology of this disorder, and paved the way for the development of new therapeutics and new hope for this fatal disease.
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