familial ALS

Top ALS researchers pinpoint the most formidable challenges in research today and make recommendations to serve as a road map for the future

Posted on Monday, October 7, 2013 - 02:37, By: Amy Madsen
Not all amyotrophic lateral sclerosis (ALS) research happens in laboratories or clinical settings. Scientific conferences also play a central role in the search for ALS treatments and cures. One important example of this is the Tarrytown II ALS Conference, which was held in Tarrytown, N.Y., in...

Five short items about the state of ALS science addressing: a therapy targeting SOD1; roles for TDP43 in behavior and body fat; respiratory care; and more

Posted on Tuesday, September 24, 2013 - 14:45, By: Amy Madsen
This roundup of recent amyotrophic lateral sclerosis (ALS) research and clinical trials news includes:

Twenty-five new genetic mutations were found in people with sporadic ALS but not in their parents, supporting the role of genetic contribution in the noninherited form of the disease

Posted on Friday, May 31, 2013 - 12:00, By: Amy Madsen
A team of researchers in the U.S. and Australia has shed new light on sporadic amyotrophic lateral sclerosis (ALS), finding that some people with the disorder have gene mutations that may be associated with ALS and that do not exist in either of their parents — so-called de novo mutations.

In a new study, mutations in known familial ALS genes were found to be contributing factors in 11 percent of people with the sporadic form of ALS

Posted on Monday, July 9, 2012 - 12:45, By: Other
In a more than 20-year study of people with amyotrophic lateral sclerosis (ALS), a research team found that 11 percent of people with a diagnosis of sporadic ALS had mutations in genes associated with the familial form of the disease.

What do they mean, and why do they matter?

Posted on Sunday, January 1, 2012 - 12:00, By: Amy Madsen
One of the first things that comes with a diagnosis of ALS is the determination of which “form” a person has: familial or sporadic. Sometimes it appears obvious. If there’s a known history of the disease “running in the family,” then the person is said to have familial, or inherited, ALS. If the...

Small molecules in the spinal cords of symptom-free people with ALS-associated SOD1 mutations appear to signal the presence of disease before symptom onset

Posted on Thursday, October 13, 2011 - 16:00, By: Amy Madsen
An MDA-supported team of scientists has identified specific changes that occur in the spinal cord prior to disease onset in people with familial (inherited) ALS related to mutations in the SOD1 gene.
Posted on Thursday, September 1, 2011 - 10:35, By: ALSN Staff
Disease 'in a dish' is a new tool for studying ALS An MDA-supported research team has created a human cellular model of ALS using cells taken from people with the ALS8 subtype of the disease, a familial (inherited) form of ALS (amyotrophic lateral sclerosis) caused by mutations in the VAPB gene.