Neurological disease in adults with Zika and chikungunya virus infection in Northeast Brazil: a prospective observational study.

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Since 2015, the arthropod-borne viruses (arboviruses) Zika and chikungunya have spread across the Americas causing outbreaks, accompanied by increases in immune-mediated and infectious neurological disease. The spectrum of neurological manifestations […]

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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

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Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong […]

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Patient perspectives on the therapeutic profile of botulinum neurotoxin type A in cervical dystonia.

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Botulinum neurotoxin type A (BoNT-A) is an effective pharmacological treatment for the management of cervical dystonia (CD) that requires repeated administration at variable intervals. We explored patient perceptions of the […]

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Assessment of Wearing Off in Parkinson’s disease using objective measurement.

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Development of “Wearing Off” (WO) of motor and non-motor function in Parkinson’s disease (PD) adversely affects quality of life. This suggest that identifying and treating WO is important. However, identification […]

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Split hand and motor axonal hyperexcitability in spinal and bulbar muscular atrophy.

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The ‘split hand’ sign refers to preferential wasting of the thenar and first dorsal interosseous muscles with relatively sparing of the hypothenar muscles in amyotrophic lateral sclerosis (ALS) and both […]

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Parkinson’s disease determinants, prediction and gene-environment interactions in the UK Biobank.

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To systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis and the interaction of genetic risk with these factors. To evaluate whether […]

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Untargeted metabolomics yields insight into ALS disease mechanisms.

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To identify dysregulated metabolic pathways in amyotrophic lateral sclerosis (ALS) versus control participants through untargeted metabolomics.Untargeted metabolomics was performed on plasma from ALS participants (n=125) around 6.8 months after diagnosis […]

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Should I stop or should I go on? Disease modifying therapy after the first clinical episode of multiple sclerosis.

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Treatment with disease-modifying therapies (DMT) in patients with clinically isolated syndrome (CIS) represents standard care in multiple sclerosis (MS) patients nowadays. Since a proportion of patients may show no evidence […]

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Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.

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To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 […]

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Managing disorders of consciousness: the role of electroencephalography.

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Disorders of consciousness (DOC) are an important but still underexplored entity in neurology. Novel electroencephalography (EEG) measures are currently being employed for improving diagnostic classification, estimating prognosis and supporting medicolegal […]

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Polyradiculoneuropathy induced by immune checkpoint inhibitors: a case series and review of the literature.

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The purpose of the present study is to report the clinical characteristics of polyradiculoneuropathy induced by immune checkpoint inhibitors (ICIs).We retrospectively reviewed lists of all inpatients with neurological immune-related adverse […]

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A systematic review of neuropsychiatric and cognitive assessments used in clinical trials for amyotrophic lateral sclerosis.

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Up to 50% of people with amyotrophic lateral sclerosis (ALS) experience cognitive dysfunction, whilst depression and anxiety are reported in up to 44% and 33%, respectively. These symptoms impact on […]

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SMILE: a predictive model for Scoring the severity of relapses in MultIple scLErosis.

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In relapsing-remitting multiple sclerosis (RRMS), relapse severity and residual disability are difficult to predict. Nevertheless, this information is crucial both for guiding relapse treatment strategies and for informing patients.We, therefore, […]

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Inter-hospital transfer for mechanical thrombectomy within the supraregional stroke network NEVAS.

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Telemedicine stroke networks are mandatory to provide inter-hospital transfer for mechanical thrombectomy (MT). However, studies on patient selection in daily practice are sparse.Here, we analyzed consecutive patients from 01/2014 to […]

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Estimating the relative contribution of comorbidities in predicting health-related quality of life of people with multiple sclerosis.

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Little is known about the relative contribution of comorbidities in predicting the health-related quality of life (HRQoL) of people with Multiple Sclerosis (PwMS).To determine the associations between the number of […]

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Feasibility and initial validation of ‘HD-Mobile’, a smartphone application for remote self-administration of performance-based cognitive measures in Huntington’s disease.

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Smartphone-based cognitive assessment measures allow efficient, rapid, and convenient collection of cognitive datasets. Establishment of feasibility and validity is essential for the widespread use of this approach. We describe a […]

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Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy.

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To determine the prevalence of different comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and their impact on outcome, treatment choice and response.Using a structured questionnaire, we collected information on comorbidities […]

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Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population.

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The proline-rich coiled-coil 2A (PRRC2A) gene has been reported to underlie risk of various autoimmune diseases. However, no data reveal the risk susceptibility of PRRC2A to neuromyelitis optica spectrum disorder […]

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Epileptic seizures of suspected autoimmune origin: a multicentre retrospective study.

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To analyse autoantibody status in a well-defined European multicentre cohort of patients with epilepsy of unknown aetiology and to validate the recently proposed Antibody Prevalence in Epilepsy (APE2) and Response […]

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Deficits in verbal fluency in presymptomatic C9orf72 mutation gene carriers-a developmental disorder.

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A mutation in C9orf72 constitute a cross-link between amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD). At clinical manifestation, both patient groups may present with either cognitive impairment of predominantly […]

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