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Recent items - Nature Reviews Neurology

Epilepsy: Sibling study highlights genetic trait of epilepsy
07/05/2013 11:15
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 fo
Neurodegenerative disease: VCP mutations lead to defects in mitochondrial dynamics
07/05/2013 11:15
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 e
Multiple sclerosis: Sodium channel blocker protects axons in MS models
07/05/2013 11:15
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
Multiple sclerosis: Imaging of central veins in brain lesions can be used to predict multiple sclerosis
07/05/2013 11:15
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 s
Neuroinflammation: A role for platelets in neuroinflammation?
07/05/2013 11:15
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
Stroke: Coupling of inhibitory and facilitatory rTMS enhances motor recovery following hemiplegic stroke
07/05/2013 11:15
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 a
Multiple sclerosis: Severity of cognitive deficits in MS linked to disease course
07/05/2013 11:15
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 an
Multiple sclerosis in 2012: Novel therapeutic options and drug targets in MS
07/05/2013 11:15
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.
Advances in understanding the molecular basis of frontotemporal dementia
07/05/2013 11:15
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.
Dementia: A new algorithm for molecular diagnostics in FTLD
07/05/2013 11:15
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
Stroke: A step closer to statin therapy for stroke?
07/05/2013 11:15
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
Parkinson disease: Neurostimulation in PD—benefit of early surgery revealed
07/05/2013 11:15
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 E
White matter disease: Early treatment of inflammatory demyelinating disease
07/05/2013 11:15
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 ne
The role of neuroplasticity in dopaminergic therapy for Parkinson disease
07/05/2013 11:15
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 respon
Spinal cord tumours: advances in genetics and their implications for treatment
07/05/2013 11:15
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
The utility of cerebrospinal fluid analysis in patients with multiple sclerosis
07/05/2013 11:15
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 m
Progress in gene therapy for neurological disorders
07/05/2013 11:15
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
The role of palliative care in patients with neurological diseases
07/05/2013 11:15
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. Challeng
Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies
07/05/2013 11:15
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 Dishevelle
Amyotrophic lateral sclerosis: Early involvement of grey matter oligodendrocytes in amyotrophic lateral sclerosis
07/05/2013 11:15
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 thi
Multiple sclerosis: Daclizumab HYP shows efficacy in patients with relapsing–remitting MS
07/05/2013 11:15
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 re
Migraine: Tyrosine metabolism linked to chronic migraine
07/05/2013 11:15
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 tyra
Epilepsy: Risk factors identified for postictal psychosis
07/05/2013 11:15
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. identifie
Alzheimer disease: Cognitive reserve in preclinical Alzheimer disease shows correlation with PET amyloid imaging
07/05/2013 11:15
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 am
Traumatic brain injury: Intracranial pressure monitoring in traumatic brain injury
05/04/2013 15:18
A randomized study has indicated that continuous monitoring of intracranial pressure (ICP) in patients with traumatic brain injury does not improve outcome compared with care based on imaging and clinical examination. The results do not, however, jus
Traumatic brain injury: Giving voice to a silent epidemic
05/04/2013 15:18
A large epidemiological study of traumatic brain injury (TBI) in New Zealand has contributed to filling the knowledge gap on TBI incidence and severity. To improve health outcomes, however, public health practice must translate such findings into pol
Neuroimmunology: Treatment of anti-NMDA receptor encephalitis—time to be bold?
05/04/2013 15:18
Treatment of anti-NMDA receptor encephalitis—a recently identified cause of autoimmune encephalitis—with aggressive immunosuppressive therapies has been a subject of debate. Now, a large observational cohort study suggests that most patients resp
Multiple sclerosis: Linking disability and spinal cord imaging outcomes in MS
05/04/2013 15:18
In multiple sclerosis (MS), a clinicoradiological paradox exists whereby clinical and MRI measures show poor correlation. New findings suggest that quantitative imaging to assess microstructural changes in the spinal cords of patient with MS could ov
Parkinson disease: New guidelines for diagnosis of Parkinson disease
05/04/2013 15:18
At least 10% of diagnoses of Parkinson disease that are made while the patient is alive are not confirmed at autopsy. To help address this issue, the European Federation of Neurology and the Movement Disorder Society European Section have provided ev
Acute and chronic traumatic encephalopathies: pathogenesis and biomarkers
05/04/2013 15:18
Over the past decade, public awareness of the long-term pathological consequences of traumatic brain injury (TBI) has increased. Such awareness has been stimulated mainly by reports of progressive neurological dysfunction in athletes exposed to repet
Biomarkers of mild traumatic brain injury in cerebrospinal fluid and blood
05/04/2013 15:18
Mild traumatic brain injury (TBI), which is defined as a head trauma resulting in a brief loss of consciousness and/or alteration of mental state, is usually benign, but occasionally causes persistent and sometimes progressive symptoms. Whether a thr
Chronic neuropathologies of single and repetitive TBI: substrates of dementia?
05/04/2013 15:18
Traumatic brain injury (TBI) has long been recognized to be a risk factor for dementia. This association has, however, only recently gained widespread attention through the increased awareness of 'chronic traumatic encephalopathy' (CTE) in athletes e
The clinical spectrum of sport-related traumatic brain injury
05/04/2013 15:18
Acute and chronic sports-related traumatic brain injuries (TBIs) are a substantial public health concern. Various types of acute TBI can occur in sport, but detection and management of cerebral concussion is of greatest importance as mismanagement of
Changing patterns in the epidemiology of traumatic brain injury
05/04/2013 15:18
Traumatic brain injury (TBI) is a critical public health and socio-economic problem throughout the world. Reliable quantification of the burden caused by TBI is difficult owing to inadequate standardization and incomplete capture of data on the incid
Read all about it! Why TBI is big news
05/04/2013 15:18
According to the Centre for Disease Control and Prevention, each year in the USA alone, around 1.7 million people sustain a traumatic brain injury (TBI), resulting in 52,000 deaths. TBI is often termed a 'silent epidemic', however, as many people are
Neuropsychiatric disorders: Blurring diagnostic boundaries: common genetic risk variants in major psychiatric disorders
05/04/2013 15:18
A large study incorporating genome-wide association study (GWAS) data from over 60,000 individuals has uncovered genetic risk variants that are common to a range of major psychiatric disorders, raising important questions about the aetiology and diag
Parkinson disease: Unravelling the genetic contributors and their functional roles in sporadic PD
05/04/2013 15:18
In a new study, published in Neuron, researchers have found that variants of leucine-rich repeat kinase 2 (LRRK2) and RAB7L1 interact genetically and functionally to enhance the risk of sporadic Parkinson disease (PD). The findings highlight the prot
Genetics: Mutations in autophagy gene cause a rare and severe neurodegenerative disease
05/04/2013 15:18
A new study has shown that de novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). “Involvement of autophagy has been suggested in various human neurodegenerative disorders
Neurodegenerative disease: Researchers identify the protein in c9FTD/ALS inclusions
05/04/2013 15:18
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are thought to belong to a spectrum of neurodegenerative disorders with shared clinicopathological and genetic features. Recent studies have identified a class of disorders collect
Alzheimer disease: Peripheral clearance of amyloid-β does not reduce brain levels of this peptide
05/04/2013 15:18
The 'peripheral sink' hypothesis in Alzheimer disease (AD) posits that removal of amyloid-β (Aβ) from the periphery should decrease brain levels of Aβ. In a recent study, Andrew Schumacher and colleagues tested this idea by administering the Aβ-d
Stroke: Combination antiplatelet therapy may pose risks to patients with prior ischaemic stroke
05/04/2013 15:18
Addition of the antiplatelet agent vorapaxar to standard antiplatelet therapy increases the risk of intracranial haemorrhage (ICH) in patients with prior ischaemic stroke, according to research published in Stroke. In a randomized, placebo-controlled
Neuromuscular disease: Defects in asparagine-linked protein glycosylation implicated in congenital mysathenic syndromes
05/04/2013 15:18
Mutations in genes encoding components of the asparagine-linked protein glycosylation pathway are associated with congenital myasthenic syndromes (CMSs), a new study reveals. Cossins et al. found causative ALG2 and ALG14 mutations among a cohort of
Epilepsy: 'Skeletal' chloride channel gene variants identified in patients with epilepsy
05/04/2013 15:18
The chloride channel CIC-1 was originally thought to function largely in skeletal muscle, but findings reported in Neurology suggest an additional role in the modulation of neuronal excitability. Jeffrey Noebels and colleagues found widespread expres
Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy
05/04/2013 15:18
Nat. Rev. Neurol.9, 106–118 (2013); doi:10.1038/nrneurol.2012.263In the version of this article initially published, in the author list, Chia-Chen Liu's name was misspelt. The error has been corrected for the HTML and PDF versions of the article.
Alzheimer disease: BIN1 variant increases risk of Alzheimer disease through tau
05/04/2013 15:18
A locus upstream of the gene BIN1 is second only to the apolipoprotein E locus as a genetic determinant of Alzheimer disease (AD) susceptibility, but the underlying mechanism has been unclear. Now, Jean-Charles Lambert and coworkers have identified a
Stroke: Questions raised over safety of prophylactic paracetamol use in acute phase of ischaemic stroke
05/04/2013 15:18
Prophylactic use of paracetamol should be discouraged in patients in the acute phase of ischaemic stroke who do not experience stroke-associated pain or fever, according to a new retrospective study. The findings—based on data from 6,015 patients w
Alzheimer disease: Whole-brain imaging of the glymphatic system–a new strategy to investigate amyloid clearance in AD
05/04/2013 15:18
The glymphatic pathway has recently been identified as a route through which waste and solutes—including amyloid-β, thought to be a key pathological substrate of Alzheimer disease (AD)—are cleared from the brain. Iliff et al. hypothesized that
Neuro-oncology: Study reveals extent of intratumour heterogeneity in patients with glioblastoma
05/04/2013 15:18
In glioblastoma, tumour heterogeneity is thought to underlie the poor efficacy of treatments. Now, using a novel surgical multisampling scheme, Sottoriva et al. have revealed the true extent of intratumoural heterogeneity. Numerous subtypes of gliob
Multiple sclerosis: Fatigue—a warning sign for multiple sclerosis?
05/04/2013 15:18
Fatigue is a common symptom of multiple sclerosis (MS), but researchers now suggest that fatigue is a diagnostic sign of this disease in some individuals. In a study of 5,305 patients with newly diagnosed MS and with 3 years of prediagnosis health-ca
Neuro-oncology: Optimizing the potential of MGMT as a prognostic biomarker in glioblastoma multiforme
26/03/2013 11:42
In glioblastoma multiforme (GBM), methylation of the O6-methylguanine-DNA methyltransferase (MGMT) gene is associated with good response to chemoradiation therapy. In a new study of 148 patients with newly diagnosed GBM, Lalezari et al. have shown t
Headache: Self-reported trigger factors might not provoke migraine
26/03/2013 11:42
A migraine attack can be provoked by external factors such as bright light or strenuous exercise. Hougaard and colleagues exposed 27 patients with migraine with aura to their self-reported trigger factor, to examine causal links between trigger and m
Parkinson disease: Transcription factor Nurr1 maintains dopaminergic neurons
26/03/2013 11:42
The transcription factor Nurr1 has been implicated in Parkinson disease (PD)—a movement disorder caused by selective destruction of dopaminergic neurons. Researchers have now shown that targeted ablation of Nurr1 in dopaminergic neurons in adult mi
Neuroimmunology: BAFF as a target of IVIg therapy for autoimmune disease
26/03/2013 11:42
Intravenous immunoglobulin (IVIg) is used to treat the autoimmune disease chronic inflammatory demyelinating polyneuropathy (CIDP), but the precise mechanism of action is not known. Bick et al. measured serum levels of B-cell activating factor (BAFF
Genetics: Phenotypic spectrum associated with newly identified mutations in episodic ataxia type 1
26/03/2013 11:42
Episodic ataxia type 1 (EA1) is caused by mutations in KCNA1—the gene encoding potassium channel KV1.1. A recent study of 15 affected individuals from four families led to identification of three new KCNA1 mutations, which all resulted in loss of K