“This new finding sheds light on how the mutation causes these disorders, and it provides us with a marker that helps us track disease progression in patients with this disorder and potentially combat the disease,” says senior author Leonard Petrucelli, Ph.D., a molecular neuroscientist and director of the Department of Neuroscience at Mayo Clinic in Florida.
It is the first clinically available testing service for detecting hexanucleotide repeat expansion in the C9ORF72 gene. The test is offered to aid in the diagnosis of familial and sporadic ALS.
by Michelle Pflumm, Ph.D., originally published online at ALS.net, February 28, 2012
FTLD Explained. FTLD occurs when certain regions of the brain including those involved in critical thinking, problem solving and complex decision-making shrink (red) due to neuronal loss. FTLD is also known as frontotemporal dementia (FTD). Here, an MRI of a person with a form [...]
“Although clinically they have always been described as two separate diseases, they are overlapping. We now believe that ALS and FTD are actually different clinical manifestations of the same disease.”