European Journal of Neurology

BACKGROUND AND PURPOSE: To identify statistically factors that correlate with the presence of a colony-stimulating factor 1 receptor (CSF1R) mutation and to reevaluate the accuracy of the current diagnostic criteria for CSF1R-related leukoencephalopathy. METHODS: We conducted CSF1R testing on 145 consecutive leukoencephalopathy cases who were clinically suspected of having adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). From these, we enrolled 135 cases whose detailed clinical information was available...

BACKGROUND: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi-allelic mutations in NKX6-2 were recently linked to spastic-ataxia 8 with hypomyelinating leukodystrophy (SPAX8). METHODS: Using a combination of homozygosity mapping, exome sequencing, detailed clinical and neuroimaging assessment we describe a series of new NKX6-2 mutations in a multicentre setting...

BACKGROUND AND PURPOSE: The interrelation of cognitive performance, cerebrovascular damage and brain functional connectivity (FC) in advanced arteriosclerosis remains unclear. Our aim was to investigate the associations between FC, white matter damage and cognitive impairment in carotid artery disease. METHODS: Seventy-one participants with recent cerebrovascular event and with written informed consent underwent resting-state functional MRI (fMRI) and the Addenbrooke's Cognitive Examination-Revised (ACE-R)...

BACKGROUND: Patients with epilepsy are significantly more likely to die prematurely than the general population, with causes ranging from associated co-morbidities to Sudden Unexpected Death in Epilepsy (SUDEP). We aimed to estimate UK and Ireland incidence of childhood epilepsy deaths, and to describe case demographics and clinical characteristics. METHODS: This was a prospective, population-based surveillance study using established active surveillance methodology designed by the British Paediatric Surveillance Unit (BPSU)...

BACKGROUND: Subcortical structures are affected by neurodegeneration in Alzheimer's disease (AD) and Lewy body disease (LBD). Although the co-occurrence of AD and LBD pathologies and their possible interaction have been reported, the effect of AD and LBD on subcortical structures remains unknown. We investigated the effects of AD and LBD on subcortical atrophy and their relationship with cognitive dysfunction. METHODS: The cross-sectional study recruited 42 patients with pure AD-related cognitive impairment (ADCI), 30 patients with pure LBD-related cognitive impairment (LBCI), 58 patients with mixed ADCI and LBCI, and 29 normal subjects...

BACKGROUND: The goal of this study was to determine the prevalence and incidence of NMOSD in Hungary based on the 2015 International Panel of NMO diagnosis criteria. METHODS: We conducted a retrospective population-based cohort study of 6.4 million Hungarians (age≥16) between 01 January 2006 and 31 December 2016. We selected possible NMOSD patients via multistage re-evaluation from multiple sources. Crude, sex-, and serostatus specific prevalence (per 100,000 persons) and incidence rates (per 1,000,000 person-years) from 2006 to 2015, and age-adjusted rates were estimated...

BACKGROUND: The impact of Parkinson's disease (PD) on the risk of cardiovascular disease is poorly known. We aimed to systematically review observational studies evaluating the association between PD and cardiovascular events. METHODS: Medline through PubMed, Web of Science, Cochrane Central Register of Controlled Trials with conference proceedings were searched from inception to 4th July 2019. Two reviewers independently selected studies comparing cardiovascular events between Parkinson's disease and control groups...

BACKGROUND AND PURPOSE: To study the prevalence of epilepsy in a hospital-based SLE cohort and to investigate the relationship between epilepsy and other manifestations of neuropsychiatric SLE (NPSLE). METHODS: The study population consisted of 440 SLE patients recruited from 1998 to 2012. An epilepsy-screening questionnaire was sent to all patients, where those screening positive were invited to a neurological examination with documentation of NPSLE symptoms according to ACR nomenclature...

BACKGROUND: Stroke mimics form a significant proportion of cases in acute stroke services and some present with functional neurological disorder. Little is known about the prevalence or clinical characteristics of functional stroke mimics (FSMs). METHODS: A systematic literature search and meta-analysis was carried out on published studies reporting suspected stroke and stroke mimic rates; 114 papers met inclusion criteria of which 70 provided a FSM rate. Random-effects models estimated prevalence rates across settings and moderators of FSM rate...

BACKGROUND: The profile and trajectory of cognitive impairment in mitochondrial disease is poorly defined. This systematic review sought to evaluate current literature on cognition in mitochondrial disease, and determine future research directions. METHODS: A systematic review was conducted, employing PubMed, Medline, Psycinfo, Embase, and Web of Science, and 360-degree citation methods. English language papers of adult patients were included. RESULTS: The literature search yielded 2421 articles, of which 167 met inclusion criteria...

We thank Dr. Sabour for his clarification on distinguishing between concepts of "diagnosis" and "early diagnosis". We agree that both have different implications for clinical practice. Our study was designed to explore the value of additional fascia analysis in patients with idiopathic inflammatory myopathies (IIMs) by assessing its prevalence in the first instance, Our study ws not designed to assess diagnostic accuracy and reliability . This article is protected by copyright. All rights reserved...

BACKGROUND: Behavioural disturbances are the core features of frontotemporal dementia (FTD), however symptoms progression is still not well characterized during the entire course of the disease. The aim of the present study was to investigate behavioural symptoms at baseline and during the disease course in a large cohort of behavioural variant FTD (bvFTD), nonfluent/agrammatic variant primary progressive aphasia (nfvPPA) and semantic variant PPA (svPPA) patients. METHODS: We evaluated 403 FTD patients, 167 of which had at least one-year follow-up evaluation (for a total of 764 assessments)...

Here we present a case of progressive multifocal leukoencephalopathy presenting with a pseudobulbar palsy in a sarcoidosis patient. PML complicating sarcoidosis is a rare occurrence, nonetheless, given the possibly of misrecognising the clinical entity, careful consideration should be given to patients with sarcoidosis presenting with new neurological findings and non-specific cerebral lesions. This article is protected by copyright. All rights reserved.

BACKGROUND AND PURPOSE: High uric acid (UA) levels have been shown to exert a neuroprotective effect in Parkinson's disease (PD) by inhibiting oxidative stress in the nigrostriatal pathway. However, the association between striatal dopamine activity and UA level has not been clarified. METHODS: Two hundred thirteen early PD patients were enrolled. All patients underwent positron emission tomography (PET) using 18 F-N-(3-fluoropropyl)-2beta-carbon ethoxy-3beta-(4-iodophenyl) nortropane and a venous blood test for quantification of serum UA...

INTRODUCTION: Muscle strengthening, stretching or proprioceptive treatments may slow the symptoms progression in Charcot-Marie-Tooth (CMT) neuropathy. Aim of the study was to evaluate safety and efficacy of a treadmill training in CMT1A. METHODS: We planned a multicenter, prospective, randomized, single blind, controlled study. We recruited 53 outpatients affected by CMT1A and randomized them into two treatment groups: one underwent stretching and proprioceptive exercise (SPE), while the other was additionally treated with Treadmill training (TreSPE)...

BACKGROUND: The brain's cholinergic network has various interconnections with the cortical and subcortical structures. Disruption of cholinergic pathways by white matter hyperintensities (WMH) may cause pathologic changes within brain regions. Thus, WMH may represent an important pathological contributor of subcortical vascular cognitive impairment (scVCI). We aim to investigate associations between the magnitude of WMH and volumetric changes in cortical and subcortical regions innervated by cholinergic neurons in patients with scVCI...

BACKGROUND AND PURPOSE: Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific haplotypes. This study aims to explore the haplotypes encompassing HTT gene in the Chinese population. METHODS: A total of 406 HD individuals and 59 normal relatives from 253 HD families were enrolled. Twenty-nine SNPs were selected and genotyped for the haplotype analysis. RESULTS: In stage one, we used 18 tag SNPs (tSNPs) to replicate the distribution of three major haplogroups (A, B, C)...

Wu et al wrote an interesting manuscript that elaborates about a burning clinical question. (1) The study design contains a large population to address their man question: if non-HDL-C level is associated with prevalence of asymptomatic vulnerable carotid atherosclerotic plaque. Particularly the latter, collecting such a large population with asymptomatic patients with a vulnerable plaque, deservers credits. The most important question I had reading this important paper is how exactly the vulnerability of the (asymptomatic) plaque was defined...

BACKGROUND: The prognostic value of serum neurofilament light chain (sNfL), a biomarker of neurodegeneration, compared to other prognostic factors of amyotrophic lateral sclerosis (ALS) at the time of diagnosis, remains unclear. METHODS/PATIENTS: Sera from ALS patients were prospectively collected at the first diagnostic visit in our centre. sNfL levels were determined by single molecule array in 207 ALS patients and in 21 healthy controls. The prognostic value of sNfL was compared with that of other known clinical prognostic factors using a Cox regression model and multivariate analysis...

BACKGROUND AND AIMS: Subclinical atrial fibrillation (AF) is known to underlie a number of cases of cryptogenic stroke (CrS). However there is need to define the most effective strategy for AF detection. We analyzed the diagnostic usefulness of a strategy based on ultra-early continuous monitoring in patients with CrS in terms of AF detection, oral anticoagulation treatment and stroke recurrence, in comparison to a standard outpatient strategy. METHODS: Patients with ischemic stroke of undetermined origin and confirmed to be cryptogenic after extensive work-up were searched for AF with: a) a conventional strategy (historical cohort, n=101) with serial ECGs and 24h-Holter monitoring; or b) an ultra-early monitoring strategy with insertable cardiac monitor (ICM) implanted before discharge (prospective cohort, n=90)...