Novel Aspects on Motor Neuron Disease: The Recent Genetic Studies on ALS

Abstract

At present, with the advanced affordable genetic testing, the rate of discovering amyotrophic lateral sclerosis (ALS)-related genes rapidly increases. These genetic findings provide new insights into therapies that target genetic subset of ALS. However, the research on the genetic and environmental causes of ALS is still in the early stage. In this chapter, we review the current understanding of ALS-related genes and summarize the worldwide ALS distribution feature by the frequency of occurrence in different regions. We summarize the advances in genetic testing and counseling for ALS. Based on the increase in genetic testing, we believe that the ALS patients and families would be benefited from our studies in the near future.

11C‐PK11195 PET–based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis

“…Since the discovery of the first mutations in superoxide dismutase gene ( SOD1 ), 9 more than 25 ALS causative genes and more than 100 gene mutations increasing susceptibility or influencing ALS development were identified 10–12 . In addition to SOD1 , mutations in the TAR DNA‐binding protein ( TARDBP ) gene, fused in sarcoma ( FUS ), C9ORF72 , Ubiquilin2 ( UBQLN2 ), CCNF , TIA1 , and TBK1 make up the majority of fALS cases 13,14 . Similar genetic alterations are present in the 5–10% of the sporadic cases.…”