Abstract：
:A 34-year old Caucasian female was initially diagnosed with multiple small-vessel strokes at age 20 years which were etiologically classified as secondary to anti-phospholipid antibody syndrome (APS) although she had no history or laboratory data to suggest APS. Based on her MRI of brain findings, one of her neurologists was concerned she could have multiple sclerosis (MS) and hence the patient was referred to our clinic for further evaluation. The patient's MRI of brain showed confluent lesions in the periventricular and juxta-cortical lesions that fulfil 2017 McDonald criteria for dissemination in space. She had no symptoms other than occasional, mild headaches and had no findings to suggest clinically isolated syndrome (CIS) or MS; additionally, her cerebrospinal fluid analysis was unremarkable. Past history showed that she had undergone surgery for glaucoma, and subsequently developed bilateral sensorineural hearing loss in the third decade that was diagnosed as Meniere's disease. Her family history revealed that her son had dysmorphic facies and was small for age. He had a bifid uvula, bilaterally duplicated thumbs and scoliosis. Additionally, he had hypertelorism, a wide forehead and flattening of mid-face. Due to his complex medical presentation, whole exome sequencing (WES) was performed that revealed a maternally inherited heterozygous pathogenic frameshift in the FOXC1 gene. Genotyping of the mother showed the FOXC1 gene variant and adds to the growing list of differential diagnoses that may mimic MS in the context of radiological changes involving cerebral small vessels. This is the first report of a FOXC1 gene variant presenting with radiological features that can erroneously be interpreted as being consistent with MS.
journal_name
Mult Scler Relat Disordjournal_title
Multiple sclerosis and related disordersauthors
Avasarala JR,Jones JR,Rogers CRdoi
10.1016/j.msard.2018.04.004subject
Has Abstractpub_date
2018-05-01 00:00:00pages
157-160eissn
2211-0348issn
2211-0356pii
S2211-0348(18)30122-6journal_volume
22pub_type
杂志文章abstract：BACKGROUND:Fingolimod (FTY720) has been approved as the first oral representative of the class of sphingosine-1-phosphate (S1P) receptor modulators for the treatment of relapsing-remitting multiple sclerosis (MS). Besides inducing vaso-relaxation, fingolimod can also influence electrical conduction in the myocardium an...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.msard.2016.04.002
更新日期：2016-07-01 00:00:00
abstract：BACKGROUND:We report a case of a woman affected by relapsing remitting Multiple Sclerosis who developed acute left ventricular dysfunction in the context of a severe brainstem relapse, one month after an attempt of in-vitro fertilization. DISCUSSION:The characteristics of our case are consistent with the hypothesis of...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2018.05.005
更新日期：2018-08-01 00:00:00
abstract：BACKGROUND:Fatigue, depression, and physical inactivity are common in multiple sclerosis (MS), but there is limited information on the bi-directional associations among those variables over a long period of time. OBJECTIVE:This study examined the hypothesis that fatigue and depression would predict change in physical ...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2011.08.003
更新日期：2012-01-01 00:00:00
abstract：BACKGROUND:Treatment decisions in patients with multiple sclerosis (MS) during the coronavirus disease 2019 (COVID-19) pandemic are challenging. It is not known whether and how various disease modifying therapies, especially immunosuppressive drugs, affect COVID-19 risk and disease course. METHODS:Case report RESULTS:...
journal_title：Multiple sclerosis and related disorders
pub_type：
doi：10.1016/j.msard.2020.102182
更新日期：2020-07-01 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) is an inflammatory autoimmune neurologic disease that causes progressive destruction of myelin sheath and axons. Affecting more than 2 million people worldwide, MS may presents distinct clinical courses. However, information regarding key gene expression and genic pathways related to ...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.102243
更新日期：2020-09-01 00:00:00
abstract：AIM OF THE STUDY:To investigate adherence to disease modifying therapy (DMT) in Lithuanian population of multiple sclerosis patients and factors associated to it. METHODS:Patients receiving one of the following DMT's: Interferon β 1a (Rebif) 44 micrograms three times a week subdermally (s/c) or Interferon β 1a (Avonex...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2017.02.016
更新日期：2017-04-01 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) is a chronic inflammatory demyelinating autoimmune disease of the central nervous system (CNS) with axonal degeneration as major determinant of neurological disability. Assessment of unmyelinated retinal nerve fibers using optical coherence tomography (OCT) may be useful for diagnosin...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2018.11.003
更新日期：2019-01-01 00:00:00
abstract：BACKGROUND:Dysphagia is a life-threating symptom in patients with multiple sclerosis (MS) because aspiration pneumonia develops as a consequence of swallowing disorders. Dysphagia can be detected by using patient-reported outcome measures in order to prevent complications. OBJECTIVE:To identify the dysphagia prevalenc...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.102397
更新日期：2020-10-01 00:00:00
abstract：UNLABELLED:Both female and male persons with MS are at increased risk for various forms of physical, sexual, and disability-specific abuse. An ongoing study revealed a subset of respondents in which the caregiver acknowledged mistreatment of the person with MS, but that person either denied or minimized mistreatment M...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2012.09.006
更新日期：2013-04-01 00:00:00
abstract：INTRODUCTION:Although multiple sclerosis (MS) is frequent in the northern hemisphere, there have not been recent epidemiological studies in the Scottish Highlands about MS. OBJECTIVES:To get updated data regarding MS prevalence, incidence and mortality in the Highlands. Time between symptom onset and MS diagnosis was ...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.102657
更新日期：2020-11-28 00:00:00
abstract：BACKGROUND:People with multiple sclerosis (MS) often develop symptoms including muscle weakness, spasticity, imbalance, and sensory loss in the lower limbs, especially at the ankle, which result in impaired balance and locomotion and increased risk of falls. Rehabilitation strategies that improve ankle function may imp...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2016.12.006
更新日期：2017-01-01 00:00:00
abstract：BACKGROUND:Increasing evidence for contribution of hemostasis components in multiple sclerosis (MS) has been reported. Hemostasis protein inhibitors display key regulatory roles, extending to regulation of innate immune response and inflammation, and promotion of blood-brain barrier integrity. Whereas the effects on he...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.102319
更新日期：2020-09-01 00:00:00
abstract：IMPORTANCE:Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system characterized by relapses and a progressive course that may lead to accumulation of physical and cognitive disability. Cognitive training interventions seem to improve the cognitive performance of MS patients. The aim of ...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.msard.2017.12.017
更新日期：2018-02-01 00:00:00
abstract：BACKGROUND:Leptomeningeal inflammation is associated with increased cortical damage and worse clinical outcomes in MS. It may be detected on contrast-enhanced T2-FLAIR imaging as focal leptomeningeal contrast-enhancement (LME). OBJECTIVE:To assess the safety of intrathecal (IT) rituximab in progressive MS (PMS) and to...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2019.02.013
更新日期：2019-05-01 00:00:00
abstract：BACKGROUND:In multiple sclerosis (MS) the quantitative role of relapses in Expanded Disability Status Scale (EDSS) worsening beyond the recovery phase is not well known. Most studies have examined the predictive role of early relapses in more distant endpoints. Relapses and worsening may be associated because they coul...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2019.04.017
更新日期：2019-07-01 00:00:00
abstract：BACKGROUND:Numerous factors can affect multiple sclerosis (MS) patients' quality of life (QoL). We investigated how physical impairment, upper extremity function, cognitive impairment, cognitive reserve, symptoms of psychological distress, depression, fatigue as well as age and disease duration contribute to patient-re...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2019.01.049
更新日期：2019-05-01 00:00:00
abstract：BACKGROUND:Fatigue is a complex and disabling symptom of Multiple Sclerosis (MS); however, there is conflicting evidence of the relationship between fatigue and clinical features of MS. Furthermore, few studies have considered these relationships specifically in a progressive MS population. AIMS:(1) estimate the preva...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2019.01.011
更新日期：2019-02-01 00:00:00
abstract：BACKGROUND:Neuromyelitis Optica Spectrum Disorder (NMOSD), commonly characterized by affecting optic nerves and spinal cord can be regarded as one of uncommon diseases of the central nervous system. Although the evidence presented in the literature supports cognitive impairments, psychological aspects of the disease an...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.102128
更新日期：2020-07-01 00:00:00
abstract：:Neurosarcoidosis is a rare disease with various clinical phenotypes. Thus, case reports and series broaden the understanding of this entity (Ibitoye et al., 2017). We present a case of isolated intramedullary spinal cord sarcoidosis, an exceedingly rare phenotype, which needs to be distinguished especially from neurom...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2017.09.010
更新日期：2017-11-01 00:00:00
abstract：BACKGROUND:Multiple Sclerosis (MS) patients find it difficult to understand the complex risk-benefit profiles of disease-modifying drugs. An evidence-based protocol was designed to improve patient's understanding of treatment information: Benefit and Risk Information for Medication in Multiple Sclerosis (BRIMMS). OBJE...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2021.102737
更新日期：2021-01-12 00:00:00
abstract：BACKGROUND:Radiologically isolated syndrome (RIS) is defined as the occurrence of incidental brain MRI lesions suggestive of multiple sclerosis (MS) in otherwise healthy subjects without any signs or symptoms that could indicate to the disease. We evaluated cognitive performance in a cohort of RIS patients. METHODS:A ...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2019.04.030
更新日期：2019-07-01 00:00:00
abstract：BACKGROUND:It has been suggested that comorbidity in subjects with multiple sclerosis (MS) increases the risk of hospitalizations, although few studies have examined this, and rarely in an incident population. METHODS:Incident MS cases were identified retrospectively from administrative data in Saskatchewan, Canada (1...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.101955
更新日期：2020-05-01 00:00:00
abstract：BACKGROUND:Notoriously the treatment of multiple sclerosis (MS) is based on the use of several different drugs, characterized by a diverse mechanism of action, efficacy and safety. Recently, progress has been made towards developing new oral immunotherapies, and dimethyl fumarate is the third oral agent approved for th...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2016.03.009
更新日期：2016-05-01 00:00:00
abstract：:Falls in people with Multiple Sclerosis (PwMS) is a serious issue. It can lead to a lot of problems including sustaining injuries, losing consciousness and hospitalization. Having a model that can predict the probability of these falls and the factors correlated with them and can help caregivers and family members to ...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2021.102740
更新日期：2021-01-07 00:00:00
abstract：BACKGROUND:Neuromyelitis optica spectrum disorder (NMOSD) is a chronic autoimmune disorder which is associated with sleep disturbances and a lower quality of life. The aims of the study were: (1) Comparing sleep characteristics, quality of life, and symptoms of depression and anxiety between patients with NMOSD and hea...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2019.04.008
更新日期：2019-07-01 00:00:00
abstract：BACKGROUND:Underestimation of relapse in multiple sclerosis (MS) is detrimental to the patient as well as to their relationship with their MS healthcare professional (HCP). OBJECTIVE:To obtain direct insight into relapse prevalence, symptoms, and HCP engagement from patients with MS who responded to the Multiple Scler...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2018.09.002
更新日期：2018-11-01 00:00:00
abstract：OBJECTIVES:To compare the liver safety profile of interferon β (IFN β) and teriflunomide in patients with multiple sclerosis. METHODS:A network meta-analysis was carried out following the Cochrane Collaboration methodology. All trials comparing all types of IFN β with teriflunomide, or disease-modifying drugs, or plac...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章,meta分析
doi：10.1016/j.msard.2018.09.014
更新日期：2018-11-01 00:00:00
abstract：BACKGROUND:Cognitive impairment is highly prevalent in multiple sclerosis (MS). Due to the lack of specialized neuropsychological resources in many MS clinics, a brief cognitive monitoring tool that can be administered by other MS clinic staff is needed. BICAMS (Brief International Cognitive As-sessment for Multiple Sc...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2019.101458
更新日期：2020-01-01 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) is an immune-mediated neurodegenerative disease in the central nerve system, in which both innate and adaptive immune cells are involved. BBR3378, an aza-anthrapyrazole prevents experimental autoimmune encephalomyelitis (EAE), an inflammatory condition similar to MS, by antagonizing T...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.102190
更新日期：2020-08-01 00:00:00
abstract：BACKGROUND:The association between routine laboratory findings, including cerebrospinal fluid biomarkers, and neurological outcomes in patients with multiple sclerosis (MS) has not been fully elucidated. In this study, we evaluated blood and cerebrospinal fluid (CSF) analysis results at diagnosis and before treatment i...
journal_title：Multiple sclerosis and related disorders
pub_type： 杂志文章
doi：10.1016/j.msard.2020.102382
更新日期：2020-10-01 00:00:00
