Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on […]» Read more
Telling friend from foe in emergency vertigo and dizziness: does season and daytime of presentation help in the differential diagnosis?
Distinguishing between serious (e.g., stroke) and benign (e.g., benign paroxysmal positional vertigo, BPPV) disorders remains challenging in emergency consultations for vertigo and dizziness (VD). A number of clues from patient […]» Read more
Repetitive transcranial magnetic stimulation as an alternative therapy for stroke with spasticity: a systematic review and meta-analysis.
Repetitive transcranial magnetic stimulation (rTMS) and intermittent theta-burst stimulation (iTBS) can be used to manage post-stroke spasticity, but a meta-analysis of the recent randomized-controlled trials (RCTs) is lacking. Our aim […]» Read more
The DizzyQuest, an app-based vestibular diary, provides the opportunity to capture the number and nature of vertigo attacks in daily life. To accomplish this, the DizzyQuest provides different strategies: event […]» Read more
Paternal exposure to antiepileptic drugs and offspring outcomes: a nationwide population-based cohort study in Sweden.
To investigate the association between paternal use of antiepileptic drugs (AEDs) and adverse neurodevelopmental outcomes and major congenital malformations (MCM) in the offspring.Using nationwide Swedish registries, we included 1 144 […]» Read more
Antibodies against contactin-associated protein-like 2 (CASPR2-Abs) have been described in acquired neuromyotonia, limbic encephalitis (LE) and Morvan syndrome (MoS). However, it is unknown whether these constitute one sole spectrum of […]» Read more
Deep brain stimulation (DBS), targeting the subthalamic nucleus (STN) and globus pallidus interna, is a surgical therapy with class 1 evidence for Parkinson’s disease (PD). Bilateral DBS electrodes may be […]» Read more
Multimodal MRI for MRgFUS in essential tremor: post-treatment radiological markers of clinical outcome.
MRI-guided focused ultrasound (MRgFUS) thalamotomy is a promising non-invasive treatment option for medication-resistant essential tremor. However, it has been associated with variable efficacy and a relatively high incidence of adverse […]» Read more
Performance validity tests (PVTs) are widely used in attempts to quantify effort and/or detect negative response bias during neuropsychological testing. However, it can be challenging to interpret the meaning of […]» Read more
Early functional MRI changes in a prodromal semantic variant of primary progressive aphasia: a longitudinal case report.
To assess longitudinal patterns of brain functional MRI (fMRI) activity in a case of prodromal semantic variant of a primary progressive aphasia (svPPA).Clinical, cognitive and neuroimaging data (T1-weighted and task-based […]» Read more
To determine whether apathy or depression predicts all-cause dementia in small vessel disease (SVD) patients.Analyses used two prospective cohort studies of SVD: St. George’s Cognition and Neuroimaging in Stroke (SCANS; […]» Read more
Risk incidence of fractures and injuries: a multicenter video-EEG study of 626 generalized convulsive seizures.
To evaluate the incidence and risk factors of generalized convulsive seizure (GCS)-related fractures and injuries during video-EEG monitoring.We analyzed all GCSs in patients undergoing video-EEG-monitoring between 2007 and 2019 at […]» Read more
Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.
Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur predominantly during night and interrupt sleep. […]» Read more
A 52-year-old man with paroxysmal atrial fibrillation presented with spontaneous confabulation, working memory deficits, and frontal release signs. MR scan of brain showed bifrontal mesial ischaemic strokes and angiography demonstrated […]» Read more
Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) […]» Read more
In neurodegenerative diseases, alongside genetic factors, the possible intervention of environmental factors in the pathogenesis is increasingly being considered. In particular, recent evidence suggests the intervention of a pesticide-like xenobiotic […]» Read more
Neuroimaging for dementia has made remarkable progress in recent years, shedding light on diagnostic subtypes of dementia, predicting prognosis and monitoring pathology. This review covers some updates in the understanding […]» Read more
Studies provide inconclusive results on the question whether loss of mental wellbeing is actually associated with decline in physical function in amyotrophic lateral sclerosis (ALS). The purpose of this study […]» Read more
Clinical and radiological differences between patients with probable cerebral amyloid angiopathy and mixed cerebral microbleeds.
The key imaging features of cerebral amyloid angiopathy (CAA) are lobar, cortical, or cortico-subcortical microbleeds, macrohaemorrhages and cortical superficial siderosis (cSS). In contrast, hypertensive angiopathy is characterized by (micro) haemorrhages […]» Read more
To comprehensively assess whether neopterin in urine could be a candidate biomarker for determining the neuroinflammatory status in ALS.We performed an observational, cross-sectional study in 81 pALS, 68 age- and […]» Read more
Vaccines are key to preventing contagious, or serious, infections. However, their use in people with multiple sclerosis (pwMS) has often been problematic because of misguided concerns that vaccinations may exacerbate […]» Read more
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused by PMP22 deletion.To determine a yield of the genetic analysis of PMP22 gene deletion in […]» Read more
The detection of antibodies to myelin oligodendrocyte glycoprotein (MOG) is fundamental for the identification of MOG antibody-associated disorders (MOGAD), and the differential diagnosis of acquired demyelinating syndromes of the CNS, […]» Read more
Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype.
Variants in the PNPLA6 gene are known to cause 4 distinct phenotypes. One known phenotype is Hereditary Spastic Paraplegia type 39 (HSP 39), a rare neurodegenerative condition characterized by variable […]» Read more
While monophasic and relapsing forms of myelin oligodendrocyte glycoprotein antibody associated disorders (MOGAD) are increasingly diagnosed world-wide, consensus on management is yet to be developed.To survey the current global clinical […]» Read more
The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is of a scale not seen since the 1918 influenza pandemic. Although the predominant clinical presentation is with […]» Read more
Reduced accuracy of MRI deep grey matter segmentation in multiple sclerosis: an evaluation of four automated methods against manual reference segmentations in a multi-center cohort.
Deep grey matter (DGM) atrophy in multiple sclerosis (MS) and its relation to cognitive and clinical decline requires accurate measurements. MS pathology may deteriorate the performance of automated segmentation methods. […]» Read more
Neurogenic calf amyotrophy with CK elevation by entrapment radiculopathy; clinical, radiological, and pathological analyses of 18 cases.
To characterize the clinical, radiological, and pathological manifestations of 18 cases showing neurogenic calf amyotrophy with creatine kinase (CK) elevation by entrapment radiculopathy (NCACKEER).We retrospectively reviewed and evaluated the medical […]» Read more
Cognitive impairment in benign multiple sclerosis: a multiparametric structural and functional MRI study.
The substrates of cognitive impairment in benign MS (BMS) still need to be identified. We investigated whether cognitive impairment in BMS patients is associated with specific patterns of brain structural […]» Read more
Discontinuation of disease-modifying treatments for multiple sclerosis in patients aged over 50 with disease Inactivity.
Treatments may become redundant in older patients with multiple sclerosis (MS). Our aim was to explore whether stopping treatments might be possible in patients aged over 50 with disease inactivity.Patients […]» Read more