Author: Katy Malpass

Despite suggestions of genetic involvement, the aetiology of familial focal epilepsies has remained unclear. Now, two new sequencing studies, published in Nature Genetics, have identified loss-of-function mutations in DEPDC5 (which encodes Dishevelled, Egl-10 and Pleckstrin [DEP] domain-containing protein 5) in individuals with familial

Author: Katie Kingwell

Abnormalities in oligodendrocytes in grey matter could be a crucial early step in the pathogenesis of amyotrophic lateral sclerosis (ALS), according to a study in mice and patients. The results provide an important advance in our understanding of this fatal motor neuron disease and highlight

Author: Heather Wood

The results of the SELECT trial, recently published in The Lancet, indicate that the humanized monoclonal antibody daclizumab reduces disease activity in relapsing–remitting multiple sclerosis (RRMS). Daclizumab blocks the α subunit of the IL-2 receptor, and its therapeutic effects in MS have been attributed

Abnormal tyrosine metabolism occurs in patients with migraine without aura—a condition that can progress to chronic migraine. A recent multicentre study involving 72 patients with chronic migraine and 37 controls has shown that serum levels of tyramine—a derivative of tyrosine—were significantly higher in patients than

Postictal psychosis can be a serious complication following epileptic seizure, but the risk factors for such events are unclear. In a retrospective analysis of the clinical records of 684 patients with temporal lobe epilepsy, Hilger et al. identified 48 patients with a history

A greater level of education could delay onset of dementia in Alzheimer disease (AD), but whether such 'cognitive reserve' correlates with biomarkers of AD pathology was not known. Now, researchers have measured cerebrospinal fluid (CSF) levels of amyloid-β (Aβ), Aβ load in the brain using

Asymptomatic siblings of patients with epilepsy have increased cortical excitability compared with healthy individuals who do not have a sibling with epilepsy, a new study has shown. The research involved 157 patients with epilepsy (generalized or focal), their unaffected siblings and 33 control individuals. The

Author: Katy Malpass

Mutations in the gene encoding valosin-containing protein (VCP) cause multisystem proteinopathy (MSP), which can involve neurological diseases such as frontotemporal dementia and amyotrophic lateral sclerosis (ALS), but the mechanism underlying the effect of these mutations was unknown. Two new studies, published in Neuron, suggest

Author: Heather Wood

A drug that is currently in phase III trials for the treatment of Parkinson disease might also protect against axonal degeneration in multiple sclerosis (MS), according to new research published in Brain. Damineh Morsali and colleagues found that the sodium channel blocker safinamide preserved

Owing to a lack of disease-specific tests, diagnosis of multiple sclerosis (MS) requires numerous, often invasive, investigations. In a new prospective study, Mistry et al. report that visualization of central veins in brain lesions using MRI is a sensitive method to predict MS.

Platelets comprise the cellular bulk of peripheral blood and have a role in thrombosis and haemostasis in response to blood vessel injury. These cells are known to become activated in—and contribute to—cardiovascular pathology, but their role in neuroinflammation was unclear. Sotnikov et al.

Repetitive transcranial magnetic stimulation (rTMS) has proved beneficial for motor recovery following stroke. In a new study, researchers used a sham-controlled design to investigate the efficacy of coupling inhibitory rTMS over the contralesional area with facilitatory theta-burst stimulation over the ipsilesional region. Compared with single-site

Cognitive deficits are more severe in patients with primary progressive multiple sclerosis (PPMS) than in those with relapsing–remitting form (RRMS), according to a new study in Neurology. Cognitive abilities were tested in 41 patients with PPMS and 60 with RRMS. Both groups performed worse

Author: Axel Methner & Frauke Zipp

Nat. Rev. Neurol.9, 72–73 (2013); doi:10.1038/nrneurol.2012.277In the version of this article initially published, the competing interests of F. Zipp were not included. The error has been corrected for the HTML and PDF versions of the article.

Author: Rosa Rademakers, Manuela Neumann & Ian R. Mackenzie

Nat. Rev. Neurol.8, 423–434 (2012); doi:10.1038/nrneurol.2012.117In the version of this article initially published, the alignment of data in Table 1 was incorrect. The error has been corrected for the HTML and PDF versions of the article.

Authors: Barbara Borroni & Alessandro Padovani

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.

Author: Mitchell S. Elkind

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.

Authors: Suneil K. Kalia & Andres M. Lozano

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.

Authors: Naraporn Prayoonwiwat & Sasitorn Siritho

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.

Authors: Xiaoxi Zhuang, Pietro Mazzoni & Un Jung Kang

Dopamine replacement is a mainstay of therapeutic strategies for Parkinson disease (PD). The motor response to therapy involves an immediate improvement in motor function, known as the short-duration response (SDR), followed by a long-duration response (LDR) that develops more slowly, over weeks. Here, we review

Authors: Patricia L. Zadnik, Ziya L. Gokaslan, Peter C. Burger & Chetan Bettegowda

Tumours of the spinal cord, although rare, are associated with high morbidity. Surgical resection remains the primary treatment for patients with this disease, and offers the best chance for cure. Such surgical procedures, however, carry substantial risks such as worsening of neurological deficit, paralysis and

Authors: Martin Stangel, Sten Fredrikson, Edgar Meinl, Axel Petzold, Olaf Stüve & Hayrettin Tumani

Diagnosis of multiple sclerosis (MS) requires the exclusion of other possible diagnoses. For this reason, the cerebrospinal fluid (CSF) should be routinely analysed in patients with a first clinical event suggestive of MS. CSF analysis is no longer mandatory for diagnosis of relapsing–remitting MS, as

Authors: Michele Simonato, Jean Bennett, Nicholas M. Boulis, Maria G. Castro, David J. Fink, William F. Goins, Steven J. Gray, Pedro R. Lowenstein, Luk H. Vandenberghe, Thomas J. Wilson, John H. Wolfe & Joseph C. Glorioso

Diseases of the nervous system have devastating effects and are widely distributed among the population, being especially prevalent in the elderly. These diseases are often caused by inherited genetic mutations that result in abnormal nervous system development, neurodegeneration, or impaired neuronal function. Other causes of

Author: Gian Domenico Borasio

Palliative care aims to improve the quality of life of patients and their families affected by life-threatening illness. This approach applies to a large and growing proportion of neurological disorders, most prominently stroke and dementia. Challenges in the palliative care of patients with incurable neurological