Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease.

Abstract:

BACKGROUND AND PURPOSE:Charcot-Marie-Tooth (CMT) disease is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders. METHODS:Ninety-six CMT disease patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single-molecule array NfL assay. RESULTS:The NfL concentration was significantly higher in the CMT disease patient group than in the controls (p < 0.001). Of the CMT disease patients, those with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT disease types) (p = 0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (rs  = 0.25, p = 0.012). In one CMT disease patient with an extremely elevated NfL level, overlap with chronic inflammatory demyelinating polyneuropathy was suspected. Receiver operating characteristic analysis showed that an NfL concentration of 8.9 pg/ml could be used to discriminate CMT disease patients from controls, with an area under the curve of 0.881. CONCLUSIONS:Our study confirmed that the plasma NfL concentration is significantly higher in CMT disease patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT disease. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT disease; however, several issues need to be addressed first.

journal_name

Eur J Neurol

authors

Millere E,Rots D,Simrén J,Ashton NJ,Kupats E,Micule I,Priedite V,Kurjane N,Blennow K,Gailite L,Zetterberg H,Kenina V

doi

10.1111/ene.14689

subject

Has Abstract

pub_date

2020-12-19 00:00:00

eissn

1351-5101

issn

1468-1331

pub_type

杂志文章
  • Thalamohippocampal atrophy in focal epilepsy of unknown cause at the time of diagnosis.

    abstract:BACKGROUND AND PURPOSE:Patients with chronic focal epilepsy may have atrophy of brain structures important for the generation and maintenance of seizures. However, little research has been conducted in patients with newly diagnosed focal epilepsy (NDfE), despite it being a crucial point in time for understanding the un...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14565

    authors: Leek NJ,Neason M,Kreilkamp BAK,de Bezenac C,Ziso B,Elkommos S,Das K,Marson AG,Keller SS

    更新日期:2021-02-01 00:00:00

  • Topography of alpha-internexin-positive neuronal aggregates in 10 patients with neuronal intermediate filament inclusion disease.

    abstract::Abnormal neuronal intermediate filament (IF) inclusions immunopositive for the type IV IF alpha-internexin have been identified as the pathological hallmark of neuronal intermediate filament inclusion disease (NIFID). We studied the topography of these inclusions in the frontal and temporal lobe in 68 areas from 10 ca...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2006.01284.x

    authors: Armstrong RA,Cairns NJ

    更新日期:2006-05-01 00:00:00

  • Higher early recurrence risk and potential benefit of dual antiplatelet therapy for minor stroke with watershed infarction: subgroup analysis of CHANCE.

    abstract:BACKGROUND AND PURPOSE:The aim was to explore the risk of early stroke recurrence within 3 months after watershed infarction and to investigate whether early dual antiplatelet therapy is more effective in decreasing such risk. METHODS:Patients enrolled in the Clopidogrel in High-risk Patients with Acute Non-disabling ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14156

    authors: Pu Y,Liu X,Wang Y,Meng X,Jing J,Zou X,Pan Y,Wang A,Zhao X,Johnston SC,Wang Y,Atchaneeyasakul K,Liebeskind DS,Liu L,CHANCE Investigators.

    更新日期:2020-05-01 00:00:00

  • Action and object naming in Parkinson's disease without dementia.

    abstract::The present study aimed to assess the ability in objects and actions naming in Parkinson's disease (PD) patients. Further, we wished to assess the effect of a particular conceptual dimension, i.e. manipulability, on the naming of object and actions. Patients were recruited from the Department of Neurology, University ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01797.x

    authors: Cotelli M,Borroni B,Manenti R,Zanetti M,Arévalo A,Cappa SF,Padovani A

    更新日期:2007-06-01 00:00:00

  • Positive response to galcanezumab following treatment failure to onabotulinumtoxinA in patients with migraine: post hoc analyses of three randomized double-blind studies.

    abstract:BACKGROUND AND PURPOSE:Humanized monoclonal antibody galcanezumab, which binds to calcitonin-gene-related peptide, has shown efficacy for episodic and chronic migraine prevention. These analyses evaluated galcanezumab response for migraine headache prevention in patients who previously failed onabotulinumtoxinA ('nonre...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14102

    authors: Ailani J,Pearlman E,Zhang Q,Nagy AJ,Schuh K,Aurora SK

    更新日期:2020-03-01 00:00:00

  • Ten things every neurologist needs to know about neuropsychological assessments and interventions in people with epilepsy.

    abstract::This paper describes 10 core features of a neuropsychological assessment with the aim of helping neurologists understand the unique contribution the evaluation can make within the wider context of diagnostic methods in epilepsy. The possibilities, limitations and cautions associated with the investigation are discusse...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/ene.14104

    authors: Baxendale SA,Wilson SJ,Baker GA,Barr W,Helmstaedter C,Hermann BP,Langfitt J,Reuner G,Rzezak P,Samson S,Smith ML

    更新日期:2020-02-01 00:00:00

  • Ultrasound-guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients.

    abstract:BACKGROUND AND PURPOSE:The purpose was to report the results of ultrasound-guided lumbar puncture for the administration of nusinersen in spinal muscular atrophy (SMA) patients with complex spines. METHODS:Eighteen SMA patients (five children, five adolescents and eight adults) with either severe scoliosis or spondylo...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14586

    authors: Veiga-Canuto D,Cifrián-Pérez M,Pitarch-Castellano I,Vázquez-Costa JF,Aparici F

    更新日期:2021-02-01 00:00:00

  • Multilocus analysis of hormonal, neurotransmitter, inflammatory pathways and genome-wide associated variants in migraine susceptibility.

    abstract:BACKGROUND AND PURPOSE:Migraine pathophysiology involves a complex interplay of processes wherein the hormonal, neurotransmitter and inflammatory pathways interact to influence the migraine phenotype. However, all studies pertaining to the role of genetic variants in migraine have been restricted to a specific pathway ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12427

    authors: Ghosh J,Pradhan S,Mittal B

    更新日期:2014-07-01 00:00:00

  • KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.

    abstract:BACKGROUND AND PURPOSE:Despite recent advances in neurogenetics that have facilitated the identification of a number of dystonia genes, many familial dystonia syndromes remain without known cause. The aim of the study was to identify the cause of autosomal dominant tremulous myoclonus-dystonia in a UK kindred with affe...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14228

    authors: Balint B,Guerreiro R,Carmona S,Dehghani N,Latorre A,Cordivari C,Bhatia KP,Bras J

    更新日期:2020-08-01 00:00:00

  • EFNS guidelines for diagnosis, therapy and prevention of Wernicke encephalopathy.

    abstract:BACKGROUND:Although Wernicke encephalopathy (WE) is a preventable and treatable disease it still often remains undiagnosed during life. OBJECTIVES:To create practical guidelines for diagnosis, management and prevention of the disease. METHODS:We searched MEDLINE, EMBASE, LILACS, Cochrane Library. CONCLUSIONS AND REC...

    journal_title:European journal of neurology

    pub_type: 杂志文章,实务指引

    doi:10.1111/j.1468-1331.2010.03153.x

    authors: Galvin R,Bråthen G,Ivashynka A,Hillbom M,Tanasescu R,Leone MA,EFNS.

    更新日期:2010-12-01 00:00:00

  • Cutaneous manifestations in Moyamoya angiopathy: a review.

    abstract::Moyamoya angiopathy (MA) is a progressive cerebrovascular disease with a poorly understood pathophysiology. It is mainly characterized by progressive bilateral stenosis of the terminal intracranial part of the supraclinoid internal carotid arteries and the proximal parts of the middle and anterior cerebral arteries, a...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/ene.14754

    authors: Mitri F,Bersano A,Hervé D,Kraemer M

    更新日期:2021-01-23 00:00:00

  • Constitutional risk factors for focal neuropathies in patients referred for electromyography.

    abstract:BACKGROUND AND PURPOSE:It is well established that patient-related constitutional features predispose to focal peripheral neuropathies. Some of these risk factors were investigated in common focal neuropathies encountered in patients referred for electromyography. METHODS:Gender, age, height and body mass index (BMI) ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14118

    authors: Martínez-Aparicio C,Jääskeläinen SK,Puksa L,Reche-Lorite F,Torné-Poyatos P,Paniagua Soto J,Falck B

    更新日期:2020-03-01 00:00:00

  • Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database.

    abstract:BACKGROUND AND PURPOSE:The role of lifestyle and dietary habits and antecedent events has not been clearly identified in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS:Information was collected about modifiable environmental factors and antecedent infections and vaccinations in patients with...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14044

    authors: Doneddu PE,Bianchi E,Cocito D,Manganelli F,Fazio R,Filosto M,Mazzeo A,Cosentino G,Cortese A,Jann S,Clerici AM,Antonini G,Siciliano G,Luigetti M,Marfia GA,Briani C,Lauria G,Rosso T,Cavaletti G,Carpo M,Benedetti L,

    更新日期:2020-01-01 00:00:00

  • Cerebral embolism in a patient with polycythemia rubra vera.

    abstract::Polycythemia rubra vera (PRV) is a rare haematological disorder that has a high risk of stroke, although the pathophysiological origin of the cerebral ischaemia in this disease is not well known. We report a case of a stroke patient with PRV in whom bilateral embolic signals were detected by transcranial Doppler (TCD)...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1046/j.1468-1331.2000.00008.x

    authors: Segura T,Serena J,Teruel J,Dávalos A

    更新日期:2000-01-01 00:00:00

  • Progressive response to botulinum A toxin in cerebral palsy.

    abstract::Botulinum A toxin (BT) has been successfully used for the management of spasticity in cerebral palsy (CP). However, the long-term results of BT have not yet been determined. We have studied the evolution of a homogeneous group of patients with CP treated with BT. All these patients had an equinus gait resulting from c...

    journal_title:European journal of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1046/j.1468-1331.2000.00043.x

    authors: García Ruiz PJ,Pascual Pascual I,Sánchez Bernardos V

    更新日期:2000-03-01 00:00:00

  • Cerebellar tumour presenting with pathological laughter and gelastic syncope.

    abstract::There is no report of patients in whom pathological laughter, a rare condition characterized by uncontrollable episodes of laughter usually triggered by unrelated stimuli, was ever closely associated with a loss of consciousness overtly linked with the onset of such uncontrollable laughter, also referred to as a gelas...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01784.x

    authors: Famularo G,Corsi FM,Minisola G,De Simone C,Nicotra GC

    更新日期:2007-08-01 00:00:00

  • Quantitation of intrathecal immunoglobulin synthesis - a new empirical formula.

    abstract:BACKGROUND AND PURPOSE:Intrathecal immunoglobulin (Ig) synthesis occurs in various chronic inflammatory neurological diseases. Different formulae have been developed for quantitative determination of Ig synthesis within the cerebrospinal fluid (CSF) compartment. The hyperbolic formula of Reiber is frequently used which...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12924

    authors: Auer M,Hegen H,Zeileis A,Deisenhammer F

    更新日期:2016-04-01 00:00:00

  • Incidence and prognosis of immune reconstitution inflammatory syndrome in HIV-associated progressive multifocal leucoencephalopathy.

    abstract:BACKGROUND AND PURPOSE:Progressive multifocal leucoencephalopathy-associated immune reconstitution inflammatory syndrome (PML-IRIS) is the paradoxical worsening or unmasking of preexisting infection with JC virus attributable to a rapid recovery of the immune system after highly active antiretroviral therapy (HAART) in...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12963

    authors: Sainz-de-la-Maza S,Casado JL,Pérez-Elías MJ,Moreno A,Quereda C,Moreno S,Corral I

    更新日期:2016-05-01 00:00:00

  • Atrophy of optic nerve detected by transorbital sonography in patients with demyelinating diseases of the central nervous system.

    abstract:BACKGROUND AND PURPOSE:Transorbital sonography (TOS) has emerged as promising imaging method for the diagnosis and follow-up of acute optic neuritis (ON). Available studies report an increase in the optic nerve diameter (OND) and the optic nerve sheath diameter (ONSD) in the case of a first episode of ON in the affecte...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14137

    authors: Schroeder C,Katsanos AH,Ayzenberg I,Schwake C,Gahlen A,Tsivgoulis G,Voumvourakis K,Gold R,Krogias C

    更新日期:2020-04-01 00:00:00

  • Association between seropositivity to Chlamydia pneumoniae and acute ischaemic stroke.

    abstract::Recent studies suggest an association between Chlamydia pneumoniae infection with atherosclerosis, including cerebrovascular disease. We investigated the prevalence of Chlamydial seropositivity in patients with acute ischaemic stroke syndrome compared with age- and sex-matched control subjects. Specific antibodies (Ig...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1046/j.1468-1331.2002.00408.x

    authors: Madre JG,Garcia JL,Gonzalez RC,Montero JM,Paniagua EB,Escribano JR,Martinez JD,Cenjor RF

    更新日期:2002-05-01 00:00:00

  • Disability in world leaders

    abstract::Eur J Neurol 6:113 Copyright Lippincott Williams & Wilkins ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.1999.tb00001.x

    authors: Boller F,Petrov AM

    更新日期:1999-03-01 00:00:00

  • Serum neurofilament light chain at time of diagnosis is an independent prognostic factor of survival in amyotrophic lateral sclerosis.

    abstract:BACKGROUND AND PURPOSE: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:Sera from ALS patients were prospectively collected at the first diagno...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14063

    authors: Thouvenot E,Demattei C,Lehmann S,Maceski-Maleska A,Hirtz C,Juntas-Morales R,Pageot N,Esselin F,Alphandéry S,Vincent T,Camu W

    更新日期:2020-02-01 00:00:00

  • Neurology and psychiatry: waking up to opportunities of sleep. : State of the art and clinical/research priorities for the next decade.

    abstract::In recent years, evidence has emerged for a bidirectional relationship between sleep and neurological and psychiatric disorders. First, sleep-wake disorders (SWDs) are very common and may be the first/main manifestation of underlying neurological and psychiatric disorders. Secondly, SWDs may represent an independent r...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/ene.12781

    authors: Bassetti CL,Ferini-Strambi L,Brown S,Adamantidis A,Benedetti F,Bruni O,Cajochen C,Dolenc-Groselj L,Ferri R,Gais S,Huber R,Khatami R,Lammers GJ,Luppi PH,Manconi M,Nissen C,Nobili L,Peigneux P,Pollmächer T,Randerath W

    更新日期:2015-10-01 00:00:00

  • High anti-EBNA-1 IgG levels are associated with early-onset myasthenia gravis.

    abstract:BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder mediated by antibodies against the acethylcholine receptor (AchR) of the neuromuscular junction in the majority of patients. METHODS: Here, we examined IgG antibodies against the type 1 nuclear antigen of Epstein-Barr virus (EBNA-1) in the sera of 158 patien...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2011.03636.x

    authors: Csuka D,Banati M,Rozsa C,Füst G,Illes Z

    更新日期:2012-06-01 00:00:00

  • Placebo-controlled trial of riluzole in multiple system atrophy.

    abstract::We performed a placebo-controlled cross-over trial of riluzole (100 mg b.i.d.) in 10 patients with probable multiple system atrophy (MSA) administering riluzole and placebo for 4 weeks each with a 4-week washout period. Outcome measures evaluated short-term anti-Parkinsonian effects using the Unified Parkinson's Disea...

    journal_title:European journal of neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1468-1331.2006.01452.x

    authors: Seppi K,Peralta C,Diem-Zangerl A,Puschban Z,Mueller J,Poewe W,Wenning GK

    更新日期:2006-10-01 00:00:00

  • Characteristics in childhood and adolescence associated with future multiple sclerosis risk in men: cohort study.

    abstract:BACKGROUND AND PURPOSE:Associations with multiple sclerosis (MS) of living conditions in childhood and characteristics in adolescence including physical fitness, cognitive function and psychological stress resilience were investigated. METHODS:A cohort of male Swedish residents born 1952-1956 who were included in the ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12718

    authors: Gunnarsson M,Udumyan R,Bahmanyar S,Nilsagård Y,Montgomery S

    更新日期:2015-07-01 00:00:00

  • Impact of cardiovascular risk factors on cognitive function: the Tromsø study.

    abstract:BACKGROUND AND PURPOSE:The role of cardiovascular risk factors in the pathogenesis of cognitive impairment and dementia remains still unclear. We examined the impact of cardiovascular risk factors on cognitive function in a large longitudinal population study. METHODS:Subjects were 5033 stroke-free men and women who p...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2010.03263.x

    authors: Arntzen KA,Schirmer H,Wilsgaard T,Mathiesen EB

    更新日期:2011-05-01 00:00:00

  • A randomized clinical trial to evaluate the effects of rasagiline on depressive symptoms in non-demented Parkinson's disease patients.

    abstract:BACKGROUND AND PURPOSE:Depressed mood is a common psychiatric problem associated with Parkinson's disease (PD), and studies have suggested a benefit of rasagiline treatment. METHODS:ACCORDO (see the ) was a 12-week, double-blind, placebo-controlled trial to evaluate the effects of rasagiline 1 mg/day on depressive sym...

    journal_title:European journal of neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/ene.12724

    authors: Barone P,Santangelo G,Morgante L,Onofrj M,Meco G,Abbruzzese G,Bonuccelli U,Cossu G,Pezzoli G,Stanzione P,Lopiano L,Antonini A,Tinazzi M

    更新日期:2015-08-01 00:00:00

  • Stroke recurrence patterns are predicted by the subtypes and mechanisms of the past, non-cardiogenic stroke.

    abstract:BACKGROUND AND PURPOSE:The association between past stroke subtypes and recurrent stroke subtypes in non-cardiogenic stroke remains unknown. METHODS:Patients with ischaemic stroke who had a past history of large-artery disease (LAD) or small-artery disease (SAD) subtypes were assessed. LAD was subdivided into intracra...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12101

    authors: Yoon Y,Lee DH,Kang DW,Kwon SU,Suh DC,Bang OY,Kim JS

    更新日期:2013-06-01 00:00:00

  • Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China.

    abstract:BACKGROUND AND PURPOSE:Mutations in the glucocerebrosidase (GBA) gene have been implicated in the development of Parkinson's disease (PD). However, recent screenings for GBA mutations in PD subjects from different ethnic populations have yielded contradictory results. METHODS:We performed a case-control study to look ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2010.03097.x

    authors: Hu FY,Xi J,Guo J,Yu LH,Liu L,He XH,Liu ZL,Zou XY,Xu YM

    更新日期:2010-12-01 00:00:00