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A variant in the TNFSF13B gene that encodes B-cell-activating factor has been found to increase the risk of multiple sclerosis and systemic lupus erythematosus in the Sardinian population. The findings underscore, and offer new insight into, the role of B cells in these autoimmune disorders, and have implications for personalized therapy.
A recent article published in Brain proposes a clinical method for subtyping Parkinson disease cases on an individual basis, with implications for better patient stratification for personalized medicine. The authors report biological validity in terms of imaging and cerebrospinal fluid parameters, but long-term predictive validity remains to be established.
The process of phenotyping and classification of dementia has improved over decades of careful clinicopathological correlation, and through the discovery ofin vivobiomarkers of disease. Elahi and Miller review the salient features of the most common dementia subtypes, emphasizing neuropathology, epidemiology, risk factors, and signature signs and symptoms.
Accumulation of misfolded protein in neurons is a common feature of many neurodegenerative diseases. In this Review, Hetz and Saxena discuss the latest advances in our understanding about the mechanisms by which protein misfolding causes neurodegeneration, and look at novel insights into the role of cellular responses to protein misfolding in synaptic function and in inflammatory and mechanical injury in the nervous system.
Despite intensive investigation, the genetic basis of chemotherapy-induced peripheral neurotoxicity (CIPN) remains elusive. In this critical update, Argyriou and colleagues highlight strategies for overcoming the methodological flaws of pharmacogenetic studies and the inadequacy of current tools for assessing CIPN. As yet, however, genetic profiling cannot identify patients at risk of CIPN or guide their management.
Although the concept of brain death is widely accepted, some people perceive it to be tantamount to a legal fiction and believe that only cardiopulmonary death is true death. To explore contemporary controversies in brain death determination, Lewis and Greer highlight a selection of recent cases in which the core concepts of brain death were questioned.
