Published in:
01-12-2011 | Editorial
C9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathology
Author:
Eileen H. Bigio
Published in:
Acta Neuropathologica
|
Issue 6/2011
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Excerpt
New avenues of investigation into sporadic neurodegenerative disease are often revealed by genetic discoveries in familial disease. In frontotemporal dementia, it seems that genetic and molecular discoveries are reported in pairs.
MAPT mutations in FTDP-17 with tauopathy (June 1998), PGRN mutations in familial FTLD-U (July 2006), TDP-43 as the major protein component of inclusions in FTLD-U (October 2006)—each of these were reported by different groups in two papers in the same month [
2,
3,
6,
11,
18,
20]. Just 2 months ago, DeJesus et al. [
8] and Renton et al. [
21] in back-to-back publications in Neuron reported that mutations in a noncoding region of
C9ORF72, coding for a protein of unknown function that is highly conserved across species, resulted in expansion of a GGGGCC hexanucleotide repeat, and was the cause of chromosome 9p-linked FTD and ALS. The recommended terminology for FTD and ALS associated with
C9ORF72 mutations is C9FTD/ALS [
8]. …