ALS Genetics in India
Amyotrophic lateral sclerosis (ALS) shows diverse genetics in India. In 238 patients negative for C9orf72 repeats, pathogenic variants occurred in 6.8%, led by SOD1, TARDBP, OPTN and NEK1, with many variants of uncertain significance and potential SQSTM1 modifiers; rare findings appeared in SETX, ALS2, DISC1, CNTN4 and MATR3, underscoring population differences and the importance of early genetic testing as gene-targeted therapies grow, guiding precision medicine in India.
Research#C9orf72#Amyotrophic Lateral Sclerosis (ALS)#Motor Neurone Disease (MND)