Inside minds, beneath diseases: social cognition in amyotrophic lateral sclerosis-frontotemporal spectrum disorder.

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To compare social cognition performance between patients with amyotrophic lateral sclerosis (ALS) and those patients with behavioural variant frontotemporal dementia (bvFTD).We included 21 participants with ALS, 20 with bvFTD and […]

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Ataxia telangiectasia: what the neurologist needs to know.

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Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia-with […]

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Eye movements and association with regional brain atrophy in clinical subtypes of progressive supranuclear palsy.

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To investigate oculomotor impairment in subtypes of progressive supranuclear palsy (PSP) and its associations with clinical features and regional brain volumes in PSP.We compared the video-oculography (VOG) findings of 123 […]

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Safety and efficacy of galcanezumab in patients for whom previous migraine preventive medication from two to four categories had failed (CONQUER): a multicentre, randomised, double-blind, placebo-controlled, phase 3b trial.

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Many patients who require migraine preventive treatment have not been able to tolerate or have not responded to multiple previous preventive medications. We aimed to assess the safety and efficacy […]

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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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Potential human transmission of amyloid β pathology: surveillance and risks.

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Studies in experimental animals show transmissibility of amyloidogenic proteins associated with prion diseases, Alzheimer’s disease, Parkinson’s disease, and other neurodegenerative diseases. Although these data raise potential concerns for public health, […]

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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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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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Early clinical surrogates for outcome prediction after stroke thrombectomy in daily clinical practice.

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To investigate early clinical surrogates for long-term independency of patients treated with thrombectomy for large vessel occlusion stroke in daily clinical routine.All patients with anterior circulation stroke enrolled in 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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Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4.

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Nusinersen recently became available as the first treatment for Spinal Muscular Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce.We evaluated the effectiveness […]

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Comparison between plasma and cerebrospinal fluid biomarkers for the early diagnosis and association with survival in prion disease.

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To compare the diagnostic accuracy and the prognostic value of blood and cerebrospinal fluid (CSF) tests across prion disease subtypes.We used a single-molecule immunoassay to measure tau and neurofilament light […]

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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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In vivo neuroinflammation and cerebral small vessel disease in mild cognitive impairment and Alzheimer’s disease.

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Associations between cerebral small vessel disease (SVD) and inflammation have been largely examined using peripheral blood markers of inflammation, with few studies measuring inflammation within the brain. We investigated the […]

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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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Deep brain stimulation of the internal globus pallidus does not affect the limbic circuit in patients with Parkinson’s disease: a PET study.

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Internal globus pallidus (GPi) deep brain stimulation (DBS) is a safe and effective alternative treatment in Parkinson’s disease (PD) for patients with cognitive impairment. However, no study has yet investigated […]

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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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