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Gilles de la Tourette syndrome (GTS) is often perceived as the 'swearing disease', yet coprolalia affects only 10–15% of individuals with this condition. As highlighted in a new study, GTS has many phenotypes, some of which are sex-related. Could gender—that is, culturally established roles—also affect the phenotype?
Increasing evidence suggests that Parkinson disease (PD) should be included on the growing list of diseases associated with vitamin D insufficiency. A recent study reconfirms this association and supports the monitoring of vitamin D concentrations in patients with PD. The conundrum of causality regarding this association, however, remains unanswered.
Primary cilia are hair-like, non-motile sensory organelles that are found on the surface of almost all cells in vertebrates. Defects in these organelles can lead to a wide array of disorders known as ciliopathies. In this Review, Valente et al. focus on ciliopathies with major neurological involvement, describing their clinical features and known pathogenetic mechanisms, and discussing the possible aetiologies of associated brain malformations.
Survivors of critical illness can experience substantial morbidity long after the event. Recent findings provide further support that long-term cognitive impairment is frequent in these patients, and that in many cases, delirium due to encephalopathy has a causal role in its development.
Currently approved multiple sclerosis (MS) treatments mainly target the peripheral immune system, thereby reducing relapse rates and MRI markers of inflammation. A recent phase III trial indicates that laquinimod, a new orally active immunomodulator, has a CNS-intrinsic mode of action that is independent of effects on the peripheral immune response.
Increasing use of brain monitoring via continuous EEG in intensive care units has revealed that subclinical seizures are common among adults and children with acute brain injury. Subclinical seizures are associated with worse outcomes, but whether their prompt detection and treatment improves outcomes remains a pressing clinical question.
Effective treatments are lacking for most neurological disorders, and progress in developing new therapeutic agents has been frustratingly slow. Howells and colleagues explore the barriers to the development of treatments for these conditions, focusing predominantly on the stroke field. They highlight the current deficiencies and conflicts of interest in preclinical and clinical research, and suggest ways in which scientific rigour might be improved.
Chronic cerebrospinal venous insufficiency (CCSVI) has been proposed as a cause of multiple sclerosis (MS). However, two new studies found a very low overall prevalence of definite CCSVI, and no association with MS. The data confirm that the ultrasound findings of CCSVI are extremely variable, subjective, and based on major methodological flaws.
Prion-like propagation of pathogenic proteins has been suggested to underlie several neurodegenerative diseases. In this Perspectives article, Braak et al. posit that progressive lesions in amyotrophic lateral sclerosis (ALS) spread through cell-to-cell transfer of 43-kDA transactive response DNA-binding protein, mainly through cortical neuronal projections to other brain areas and the spinal cord. This model could have important implications for our understanding of ALS and approach to treatment.