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  • In a new study, targeted editing of the epigenome was found to reactivate silenced MECP2 in human embryonic stem cells, suggesting that a similar approach could be used to treat Rett syndrome in girls.

    • Sarah Lemprière
    Research Highlight
  • In this Perspective article, Lipkin et al. consider the contribution of cohort studies to our understanding of autism spectrum disorders (ASDs) and debate the promise and potential challenges of such studies for dissecting the causes of ASDs and developing interventional strategies.

    • W. Ian Lipkin
    • Michaeline Bresnahan
    • Ezra Susser
  • Findings from a worldwide cohort of cognitively unimpaired individuals demonstrate that the presence of two canonical Alzheimer disease biomarkers — amyloid and tau — can reliably predict progression to mild cognitive impairment in the short-term. The results support the use of these biomarkers to diagnose preclinical Alzheimer disease in a clinical setting.

    • Marwan N. Sabbagh
    • Boris DeCourt
    News & Views
  • Facioscapulohumeral muscular dystrophy is caused by aberrant expression of the transcription factor DUX4. Tihaya, Mul and colleagues describe advances in the development of targeted treatments for facioscapulohumeral muscular dystrophy and discuss potential clinical trial outcome measures as well as molecular and imaging biomarkers.

    • Mara S. Tihaya
    • Karlien Mul
    • Silvère M. van der Maarel
    Review Article
  • The phase III Clarity AD clinical trial of lecanemab, an amyloid-targeting antibody, showed a small clinical benefit in people with Alzheimer disease. However, several questions remain regarding the true clinical relevance, safety and accessibility of lecanemab in this patient population.

    • Madhav Thambisetty
    • Robert Howard
    News & Views
  • The results of the first randomized, placebo-controlled trial of dimethyl fumarate in a cohort of participants with radiologically isolated syndrome showed efficacy against the risk of a first clinical demyelinating event. The findings pave the way for preventive medicine in multiple sclerosis and highlight the need for more precise prognostication of risk.

    • Maria Pia Amato
    • Emilio Portaccio
    News & Views
  • Advances in neuroimaging research have enabled the development of predictive models that integrate information from multiple brain systems. Here, Perovnik, Rus and colleagues discuss the detection and validation of neurodegenerative disease-specific functional brain networks and consider their relationship to pathological processes and disease-related genotypes.

    • Matej Perovnik
    • Tomaž Rus
    • David Eidelberg
    Review Article
  • Technological advances over the past decade have made precision genetic diagnosis available to many patients. The findings of a new study demonstrate that genetic diagnosis in epilepsy can lead to changes in clinical management that manifest as positive outcomes for the patient. The results herald a new era in which precision diagnosis will lead to precision medicine.

    • Katrine M. Johannesen
    News & Views
  • Here, Spires-Jones and colleagues review our current understanding of the mechanisms underlying synaptic degeneration in Alzheimer disease and highlight key questions that still need to be answered. They also discuss novel therapeutic approaches that target the synapse.

    • Makis Tzioras
    • Robert I. McGeachan
    • Tara L. Spires-Jones
    Review Article
  • Gene therapies show promise for treating epilepsy, but most strategies target cells across an entire brain region rather than selecting pathologically hyperexcited neurons. Researchers have now developed a conditional gene therapy strategy that downregulates firing activity only in neurons that are pathologically overactive and switches off when brain circuit activity has returned to baseline.

    • Pasquale Striano
    • Fabio Benfenati
    News & Views
  • Amyotrophic lateral sclerosis (ALS) is a devastating, incurable disease characterized by progressive loss of upper and lower motor neurons. Here, the authors describe the current landscape of genetic therapies for ALS and discuss new opportunities for gene replacement therapy, focusing on loss-of-function mutations.

    • Ilaria Giovannelli
    • Adrian Higginbottom
    • Pamela J. Shaw
    Review Article