Investigators at Nationwide Children’s Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne muscular dystrophy (DMD) and potentially other muscular dystrophies. As a model for NBS, the approach published online in January in the Annals of Neurology provides evidence that this approach could be implemented if approved by regulatory bodies at a state level or alternatively through the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.
psychology
Lifestyle study highlights key differences in relapsing and progressive onset MS
Patients with relapsing onset Multiple Sclerosis (MS) who consumed alcohol, wine, coffee and fish on a regular basis took four to seven years longer to reach the point where they needed a walking aid than people who never consumed them. However the study, published in the April issue of the European Journal of Neurology, did not observe the same patterns in patients with progressive onset MS.
Stem cells hint at potential treatment for Huntington’s disease
Huntington’s disease, the debilitating congenital neurological disorder that progressively robs patients of muscle coordination and cognitive ability, is a condition without effective treatment, a slow death sentence.
Eye health is related to brain health
People with mild vascular disease that causes damage to the retina in the eye are more likely to have problems with thinking and memory skills because they may also have vascular disease in the brain, according to a study published in the March 14, 2012, online issue of Neurology, the medical journal of the American Academy of Neurology.
MS study documents negative effect of warmer weather on cognition
Warm weather may hinder cognitive performance in people with multiple sclerosis (MS), according to results of a Kessler Foundation study e-published online ahead of print by Neurology. An accompanying editorial by Meier & Christodoulou, MS and heat: The smoke and the fire, details the study’s unique aspects, ie, longitudinal followup in a cohort with apparently quiescent disease.