ALS Compendium

Title: The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Year Published: 2013

Observation: Frequency of mutations C9ORF72 29/112 (26%), SOD1 27/112 (24%), FUS 4/112 (4%) and TARDBP 1/112 (1%) The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, P< 10(-8)).

Comment: Hexanucleotide repeat expansion mutation in C9ORF72 has a single founder and is the most common mutation in familial and sporadic ALS in Europe.

Citation: Smith, B. N., Newhouse, S., Shatunov, A., Vance, C., Topp, S., Johnson, L., … Shaw, C. E. (2013). The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. European Journal of Human Genetics : EJHG, 21(1), 102–8. doi:10.1038/ejhg.2012.98

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