METHODS FOR THE DIAGNOSIS OF AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL LOBAR DEGENERATION

摘要

The invention relates to the detection of mutations in the promoter region of the gene C9ORF72, in particular a hexanucleotide expansion, wherein said mutations cause a significant decrease in the expression of gene C9ORF72. The decrease in gene C9ORF72 expression is related to the presence of amyotrophic lateral sclerosis (ALS) or frontotemporal lobar degeneration (FTLD), and the mutations can be used in the diagnosis of ALS and/or FTLD, or in the construction of transgenic animals for studying ALS and/or FTLD.