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Hexanucleotide Repeat in the C9orf72 Gene for the Diagnosis and Treatment of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

This invention relates to the discovery of a pathogenic GGCCCC hexanucleotide repeat expansion in the first intron of the C9orf72 gene on chromosome 9p21 in patients exhibiting amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). The inventors have previously identified a strong association signal in this genomic region and used this information to identify the underlying pathogenic mutation. The pathogenic repeat expansion accounts for up to 50% of familial ALS and familial FTD cases and up to 10% of sporadic ALS and sporadic FTD cases in European ancestry populations. The inventors represent that this finding will be the basis of diagnostic screening for ALS and/or FTD patients, as well as an important target in the development of therapeutics for ALS and/or FTD.
Improved diagnosis and treatment of ALS and/or FTD.
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