Early Markers of Disease in Familial ALS

An estimated 10% of amyotrophic lateral sclerosis (ALS) is familial. Katharine Nicholson, M.D., an assistant in neurology at Massachusetts General Hospital and an instructor at Harvard Medical School, discusses her work to identify key biomarkers, which one day will allow doctors to make faster, more accurate diagnoses. #AmyotrophicLateralSclerosis #ALS #JohnsHopkins

Chapters:
3:00 Why care about early familial ALS biomarkers?
17:24 The Dominant Inherited ALS (DIALS) Network
51:55 The Prevent ALS Initiative

[salvadorhirth]

Thank you for all involved in diagnosis and treatment of patients.
Sometimes, cytosines in CAG triplets suffer a methylation followed by spontaneous deamination, resulting in the transformation of the CAG triplet into a STOP codon TAG. Glycosylases sometimes can't remove the error in time.
Perhaps inhibitors of DNA methylation used to treat a form of leukemia, should be investigated as a potencial mean to retard the onset of diseases related to changes in the CAG triplet.

[paulmack]

Is a blood NFL test easy for one to get - or is this something available only at specialized medical institutions?