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Skeletal muscle disorders of glycogenolysis and glycolysis account for most of the conditions collectively termed glycogen storage diseases. Godfrey and Quinlivan outline the distinguishing features of these disorders, and they describe a large European registry, EUROMAC, that has been established to pool and transfer knowledge regarding McArdle disease and other rare disorders of carbohydrate metabolism.
In modern X-ray therapy, healthy brain tissue that surrounds a CNS tumour receives low to medium dose irradiation, which has important long-term adverse effects such as cognitive toxicity, endocrinopathy, hearing loss and vasculopathic effects. Prolonged long-term survival in certain paediatric CNS tumours call for more attention in avoiding the long-term sequelae of radiotherapy. This Review discusses how proton therapy improves dose distribution and can help reduce long-term toxicities.
Extracellular vesicles (EVs) are released by most cell types, and they carry a cargo of protein and nucleic acid that reflects the cell of origin. Thompson and colleagues review current knowledge of the biology and function of EVs, including evidence for their involvement in neurodegenerative disease pathogenesis, and their potential as CNS-specific biomarkers.
Diagnosis of Creutzfeldt–Jakob disease (CJD) in living patients is challenging, but distinguishing this untreatable disease from treatable rapidly progressive dementias is essential, and will also help prevent iatrogenic transmission of CJD. In this Review, Zanusso et al. discuss novel techniques, such as ultrasensitive protein seeding assays and nasal brushings, that can aid antemortem diagnosis of CJD.
The ongoing Zika virus (ZIKV) epidemic in the Americas raises urgent questions about the risks of microcephaly in the children of ZIKV-infected mothers. New research into the 2013–2014 ZIKV outbreak in French Polynesia supports a link between maternal ZIKV infection during the first trimester of pregnancy and microcephaly.
Two new studies report on the potential of a number of antioxidants and a cholesterol-lowering drug to prevent neurodegeneration in a Drosophila genetic model of parkinsonism. This research shines a spotlight on the power of invertebrate models as an in vivo screening tool.
MRI-based visualization of demyelinated CNS lesions is pivotal to the diagnosis and monitoring of multiple sclerosis (MS). The authors describe how advanced multimodal neuroimaging techniques are providing valuable insights into lesion structure and blood–brain barrier dynamics, thereby narrowing the gap between the macroscopic view of the radiologist and the microscopic view of the pathologist. The findings in humans are compared with data from a primate model of MS — experimental autoimmune encephalomyelitis in the common marmoset.