People with Down syndrome are at high risk of developing dementia very similar to that caused by Alzheimer's disease. A study published in the journal PNAS has found that in these people, as had been observed in "classic" Alzheimer's, the characteristic proteins of the disease have prion-like features.
The New England Journal of Medicine reports the publication of data from a clinical trial studying the drug Tofersen against a form of Amyotrophic Lateral Sclerosis (ALS) caused by mutations in the SOD1 gene, which accounts for 2% of sporadic ALS. Six months after treatment, some biomarkers of neuronal damage improved, but not the clinical condition of the patients. In an extension of the study, with no placebo group, a slowing of functional loss was observed, although the researchers acknowledge that there are limitations in interpreting this result.
Scientists have analysed data on 7.1 million common DNA variants (alterations in the standard sequence) in people with and without Alzheimer's disease. The results, published in PLOS Genetics, have helped them to develop a method that can predict the risk of suffering from this neurodegenerative disease, depending on the DNA variants that a person has and before presenting symptoms.