When Debbie and Andrea’s sister shut down and stopped talking, after she publically obsessed over the beauty of her own feet, after the length of her sentences fractured into one word, after her blood was sent off for scrutiny, the pieces of a sad family puzzle finally fell into place. Their sister has a newly identified genetic mutation called chromosome 9 open reading frame 72 (C9ORF72) that can cause either frontotemporal dementia or motor neuron disease. Read more
Tag Archives: ALS
Collaboration between the UCSF Memory and Aging Center and Mayo Clinic identifies a new single gene cause of Lou Gehrig’s disease and frontotemporal dementia
Rumors started buzzing about five years ago when six different groups of scientists began narrowing in on a region of chromosome 9 to explain what they were seeing in the clinic. Frontotemporal dementia (FTD), a behavioral and cognitive neurodegenerative disease, and amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease), a neuromuscular degenerative disease, often run in the same family and may even appear in the same person. Narrowing down the right chromosome was a start, but chromosome 9 has 1534 genes on it. How do you find the right one? Read more
Frontotemporal dementia and amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease – two fatal neurodegenerative disease with distinct symptoms – are triggered by a common mutation in many cases, according to researchers who say they have identified the mutated gene.
In the study, reported in the September 21 online issue of Neuron, the scientists described the discovery of a genetic mutation that is accountable for almost 12 percent of familial FTD and more than 22 percent of familial ALS samples studied. Read more