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Alzheimers Res Ther. 2013 Feb 18;5(1):7. doi: 10.1186/alzrt161. eCollection 2013.

The C9ORF72 mutation brings more answers and more questions.

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UCSF Memory and Aging Center, MC: 1207, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158, USA.


The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy. First reported in November 2011, the C9ORF72 mutation is the most common mutation associated with both frontotemporal dementia and amyotrophic lateral sclerosis in the Western hemisphere and Europe. It is a gene with strong penetrance, and the vast majority of subjects with the C9ORF72 mutation die from a neurodegenerative condition. The most common clinical manifestation of disease in gene carriers is behavioral variant frontotemporal dementia. An extremely long hexanucleotide repeat (usually greater than 400), appears to lead to ribonucleic acid aggregates within the nucleus and suppression of gene expression. Finding therapies for C9ORF72 will be difficult and require novel therapeutic approaches that involve suppression of the expression of the C9ORF72 repeat.

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