Human genetics study identifies the most common cause of ALS and dementia

Wednesday, September 21, 2011 - 12:30 in Biology & Nature

A team led by scientists from Johns Hopkins and the National Institutes of Health has discovered a new genetic mutation for amyotrophic lateral sclerosis (ALS) and a related disease called frontotemporal dementia (FTD) that appears to account for more than a third of all inherited cases of these diseases. The researchers show in a new study published online on September 21 in Neuron that this mutation, found within a gene called C9ORF72, is about twice as common as all the other mutations discovered thus far for the disease combined.

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