Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Cover image supplied by Arnulf H. Koeppen and Joseph E. Mazurkiewicz, Veterans Affairs Medical Center and Albany Medical College, Albany, New York, USA. The dorsal root ganglion in Friedreich ataxia. In this condition, IBA1-positive monocytes breach the S100α-positive satellite cell barrier and penetrate into neurons. These observations support the conclusion that the dorsal root ganglia lesion in Friedreich ataxia includes an inflammatory component.
The American Academy of Neurology (AAN) has updated its guidelines on the use of botulinum neurotoxins in neurological disorders. The new guidelines provide individual recommendations for the four products that are commercially available in the USA; however, the clinical differences between the products are still not clear.
The Response Assessment in Neuro-Oncology Working Group has analysed the role of clinically established PET methods in the diagnostic assessment of brain tumours. The group emphasizes the clinical value of PET imaging, particularly amino acid PET imaging, over conventional MRI, and recommends its use at every stage of management.
Alteplase is widely used for acute stroke at a dose of 0.6 mg/kg in Asian patients, whereas the standard in Europe and the USA is 0.9 mg/kg. The ENCHANTED study did not show that 0.6 mg/kg alteplase is noninferior to 0.9 mg/kg, as previously suggested, raising questions about standard practice in Asia.
Overactivation of the mechanistic target of rapamycin (mTOR) signalling pathway contributes to neurological disorders, including neurodevelopmental disorders, tuberous sclerosis complex, epilepsy, and tumours of the CNS. In this Review, Peter Crino discusses the pathophysiological role of mTOR in neurological diseases and provides an overview of clinical trials that have assessed the efficacy of mTOR inhibitors in these diseases.
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.
Premutation CGG expansions in theFMR1gene can lead to various premutation disorders throughout life and ultimately lead to fragile X-associated tremor/ataxia syndrome (FXTAS) in late life. In this Review, the authors summarize our current understanding of the clinical features and management of FXTAS, and consider how our advancing understanding of the pathogenic mechanisms could lead to new therapies.
Numerous genetic variants have been associated with late-onset Alzheimer disease (LOAD) but the determination of their effect has proven challenging. Here, Gaiteri and co-workers discuss how the analysis of molecular and brain networks and their combination into multiscale models can provide a more comprehensive and clinically relevant representation of the effects of LOAD-associated genetic variants