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Genetic diagnosis of frontotemporal lobar degeneration has become challenging since the identification of a number of autosomal dominantly inherited causative mutations. As highlighted in a new paper, careful characterization of the clinical picture associated with a specific gene defect is mandatory to guide genetic screening, and to establish a diagnostic algorithm for neurology practice.
Accumulating evidence suggests that statin therapy could assist functional recovery following acute ischaemic stroke. A recent study indicates that early administration of statins after intravenous thrombolysis for stroke improves functional outcomes, and reduces mortality and neurological deterioration. Owing to the observational study design, however, these findings should be interpreted cautiously.
Studies over the past two decades have shown that neurostimulation provides symptomatic benefit to patients with Parkinson disease (PD). However, surgical intervention is considered only for patients in late stages of disease. Now, results from the EARLYSTIM trial demonstrate that neurostimulation in early PD can markedly improve quality of life.
Multiple sclerosis and neuromyelitis optica—two inflammatory demyelinating diseases with different pathogenesis and treatment regimens—have overlapping clinical manifestations, which can make diagnosis at initial presentation difficult. Now, a new guideline aims to improve early treatment decisions in patients with these disorders, particularly in the Asia–Pacific region.
In patients with Parkinson disease (PD), the motor response to dopamine replacement therapy comprises an acute improvement in motor function, followed by the 'long-duration response' (LDR), in which motor improvements develop over weeks. Kang and colleagues review evidence to suggest that the LDR involves dopamine-dependent changes in corticostriatal plasticity, and discuss the implications of this framework for clinical management of PD. The authors argue that aberrant plasticity contributes to motor fluctuations during chronic dopamine replacement, and could be a novel therapeutic target for patients with PD or other basal ganglia disorders.
Tumours of the spinal cord are associated with high morbidity but, owing to the rarity of such tumours, our understanding of the biology of these lesions is limited. In this Review, Zadnik et al. summarize current knowledge on the demographics, genetics and treatment of the most common spinal cord tumours—namely, ependymomas, astrocytomas, haemangioblastomas and meningiomas—and highlight how recent advances in genetic studies are informing research to develop novel therapeutic approaches.
Cerebrospinal fluid (CSF) investigation should be routinely performed in patients with a first clinical event that is suggestive of multiple sclerosis (MS). This Review highlights the value of existing CSF biomarkers in eliminating potential differential diagnoses for MS and understanding the underlying pathophysiology of this condition. The authors also discuss the potential for novel biomarkers that could be used in prognosis.
Neurological diseases that result from an underlying genetic mutation or from acquired genetic and/or epigenetic changes are prevalent in the population, and might be amenable to gene therapy. In this Review, Simonato et al. discuss new developments in gene therapy vector design and delivery for the treatment of neurological diseases, including sensorineural disorders, Parkinson disease and epilepsy. The authors also outline the most promising therapeutic approaches to date.
The aim of palliative care is to improve the quality of life for patients with terminal illness, and also their families. In this Perspectives article, the author discusses the challenges specific to palliative care for patients with neurological disorders, and outlines new approaches to the care of these patients.