Journal of Neurology

BACKGROUND: Dementia with Lewy bodies remains underdiagnosed in clinical practice mainly because of the low sensitivity of existing diagnostic criteria and a strong overlap with Alzheimer's pathology that can mask the Lewy phenotype. OBJECTIVE: The objective of this study was therefore to develop and validate a new clinical scale designed to detect signs of Lewy body disease, called LeSCoD for Lewy body Screening scale in Cognitive Disorders. METHODS: 128 patients who fulfilled the clinical criteria of dementia with Lewy bodies (DLB; n = 32), Alzheimer's disease (AD; n = 77) or both (n = 19) was prospectively enrolled...

OBJECTIVE: Niemann Pick disease type C (NPC) is a rare progressive neurovisceral lysosomal disorder caused by autosomal recessive mutations in the NPC1 or NPC2 genes. 18F-fluorodeoxyglucose (FDG) is a positron-emitting glucose analogue for non-invasive imaging of brain metabolism. FDG PET is commonly used for dementia imaging but its specific application to NPC is rarely described. METHODS: This is a retrospective study of all baseline brain FDG PET performed for NPC patients...

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INTRODUCTION: Intravenous immunoglobulin (IVIg) has been proven beneficial in myasthenic crisis, but their role as maintenance therapy is unclear. The aim of this study was to determine if maintenance therapy with low-dose IVIg improves clinical outcome and may be used as a steroid-sparing agent in myasthenia gravis (MG). METHODS: We retrospectively reviewed charts of all MG patients treated with IVIg from January 2006 to December 2019. Long-term treatment response to IVIg was assessed by improvement in the Myasthenia Gravis Foundation of America (MGFA) clinical classification scale as primary end point, as well as the ability to reduce the time-weighted average required dose of prednisone as secondary end-point, in a follow-up period of 36 months...

BACKGROUND: In multiple sclerosis (MS), pronounced neurodegeneration manifests itself as cerebral gray matter (GM) atrophy, which is associated with cognitive and physical impairments. Microstructural changes in GM estimated by diffusion kurtosis imaging (DKI) may reveal neurodegeneration that is undetectable by conventional structural MRI and thus serve as a more sensitive marker of disease progression. OBJECTIVE: The primary objective was to investigate the relationships between morphological and diffusional properties in cerebral GM and physical and cognitive performance in relapsing-remitting MS (RRMS) patients...

BACKGROUND: Ross syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and segmental anhidrosis. We sought to characterize the clinical presentation, associated autoimmune disorders, and autonomic profile in patients with Ross syndrome to further elucidate its pathophysiology. METHODS: We performed a retrospective chart review of all patients who underwent a thermoregulatory sweat test (TST) between 1998 and 2020 and had confirmation of the diagnosis of Ross syndrome by an autonomic disorders specialist...

BACKGROUND: Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger families. Presenting the first de novo occurrence of a heterozygous STUB1 variant, we here present additional qualitative evidence for STUB1-disease as an autosomal-dominant disorder. METHODS: Whole exome sequencing on an index patient with sporadic early-onset ataxia, followed by Sanger sequencing in all family members, was used to identify causative variants as well as to rule out alternative genetic hits and intronic STUB1 variants...

OBJECTIVES: To clarify whether serum neurofilament light chains (NfLs) serve as a biomarker of axonal damage in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), especially in patients with anti-neurofascin 155 (NF155) antibodies. METHODS: The Simoa system was used to examine serum NfL levels from 58 patients with CIDP, including 13 anti-NF155 antibody-positive patients, and from 14 age- and sex-matched healthy individuals. Serum NfL levels were evaluated before and after treatment in eight patients with anti-NF155 antibodies...

There have been considerations since the beginning of the Coronavirus pandemic that COVID-19 infection, like any other viral illness, can trigger neurological and metabolic decompensation in patients with mitochondrial diseases. At the time of writing, there were no published reports reviewing experiences and guidelines about management of COVID-19 infection in this patient population. We present a challenging case of an adult patient with a known diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) complicated by COVID-19 infection...

BACKGROUND: Identifying the cause of non-traumatic coma in the emergency department is challenging. The clinical neurological examination is the most readily available tool to detect focal neurological deficits as indicators for cerebral causes of coma. Previously proposed clinical pathways have granted the interpretation of clinical findings a pivotal role in the diagnostic work-up. We aimed to identify the actual diagnostic reliability of the neurological examination with regard to identifying acute brain damage...

The present study aims to summarize the safety profile of the medications used to treat migraine during pregnancy by performing a systematic review and meta-analyses. The term "migrain*" combined with pregnancy terms were used to search Embase, PubMed, PsychInfo, Scopus, and Web of Science through 31 December 2020. Pooled prevalences of untreated and treated migraine patients were estimated using MetaXL software. Pooled odds ratios (OR) using random effects models were estimated in RevMan 5. All the identified studies assessed medications used to treat acute migraine...

OBJECTIVE: To describe the course of disability in patients with benign multiple sclerosis-i.e., with an expanded disability status scale score < 3 10 years after disease onset-for up to 30 years after disease onset. We evaluated the proportion of patients remaining in the benign state on the long term and the factor associated with this favorable outcome and determined the pattern of disability course after the loss of the benign status. METHODS: Patients were selected from the ReLSEP, a French population-based registry...

OBJECTIVE: Neurofeedback training may improve cognitive function in patients with neurological disorders. However, the underlying cerebral mechanisms of such improvements are poorly understood. Therefore, we aimed to investigate MRI correlates of cognitive improvement after EEG-based neurofeedback training in patients with MS (pwMS). METHODS: Fourteen pwMS underwent ten neurofeedback training sessions within 3-4 weeks at home using a tele-rehabilitation system...

PURPOSE: We aim to provide prevalence and pattern of anatomical variants of circle of Willis in over one thousand ischemic stroke patients compared to an age- and sex-matched control group, and to determine their role in the severity and in-hospital prognosis. METHODS: Two groups of neuroradiologists evaluated all vascular images of ischemic stroke patients and controls to identify anatomical variants using a preexisted classification. We collected data concerning patient characteristics, stroke severity on admission and discharge, in-hospital mortality, hemorrhagic transformation, acute treatment performed, and etiology...

OBJECTIVE: To identify coping strategies used by amyotrophic lateral sclerosis (ALS) patients. METHODS: Integrative literature review using the Virtual Health Library, MEDLINE, and ScienceDirect databases. RESULTS: Eighteen studies were included. "Seeking social support" was the main coping strategy, while "Confrontive coping" and "Distancing" were the least mentioned. CONCLUSION: The coping strategies used by ALS patients do not seem to focus on emotions or stress-triggering problems...

Opsoclonus-myoclonus-ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a clinical triad of (1) erratic saccadic intrusions; (2) myoclonus and/or ataxia; (3) behavioral features, typified by developmental plateauing, irritability and insomnia. About half of cases are associated with an underlying neuroblastoma and diagnostic imaging is essential once OMAS is suspected. A thorough workup, including serum, urine, and cerebrospinal fluid studies is critical to identify underlying biomarkers of OMAS itself or neuroblastoma...

OBJECTIVE: This study aimed to investigate the timing of meeting the criteria for a status of "minimal manifestation (MM) or better" and the factors that influenced whether "MM or better status" or "MM or better status with an oral prednisolone (PSL) dose of 5 mg/day or less (5-mg MM)" was met in patients with acetylcholine receptor (AChR) antibody-positive generalized myasthenia gravis (MG). METHODS: We performed a retrospective study in 93 patients with AChR antibody-positive generalized MG who were followed for 3 years after the start of immunotherapy...

OBJECTIVE: Arachnoid cysts (ACs) are frequent incidental findings and may be associated with neuropsychiatric symptoms. Usually growth of the ACs with pressure on adjacent brain tissue is regarded as cause of the symptoms. This study was undertaken to identify if and which ACs grow with time. METHODS: We used a large database of cranial MRIs for a retrospective analysis. RESULTS: During a period of 10 years, we collected 166 ACs of 50 persons, mean observational period was 2...

BACKGROUND: Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7-associated phenotype. METHODS: Comprehensive phenotyping was performed with documentation of clinical, neurophysiological, optical coherence tomography (OCT) and genetic data from individuals with SPG7 attending two academic neurology units in Dublin, including the National Ataxia Clinic. RESULTS: Thirty-two symptomatic individuals from 25 families were identified...

OBJECTIVE: To evaluate the frequency and headache-related impact response to monoclonal antibodies against calcitonin gene-related peptide (CGRP) in a clinical sample of refractory migraine patients. METHODS: We included migraine patients with ≥ 8 headache days/month that had failed at least three preventive medications. Demographic, medical and migraine history were collected. Patients completed an electronic headache diary including headache days/month, migraine days/month, headache pain intensity (0-3 numerical scale), use of analgesics and completed Patient-Reported Outcome questionnaires at baseline and after 12 weeks...