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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion

1 Jan 2012

Abstract excerpt

Frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) are related but distinct neurodegenerative diseases. The identification of a hexanucleotide repeat expansion in a noncoding region of the chromosome 9 open reading frame 72 (C9ORF72) gene as a common cause of FTD/ALS, familial FTD, and familial ALS marks the culmination of many years of investigation. This confirms the linkage of disease to...

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PMID: 22808918
DOI: 10.1186/alzrt130

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