SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.

Abstract:

BACKGROUND AND PURPOSE:The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 showing heterogeneous clinicopathological features. METHODS:We performed clinical, electrophysiological, magnetic resonance imaging (MRI) and muscle pathology studies in four SOD1 p.D12Y variant-positive patients. RESULTS:The SOD1 p.D12Y clinical manifestations ranged from a benign phenotype characterized by distal distribution of muscular weakness and long survival to classic forms of amyotrophic lateral sclerosis with poor prognosis. Two patients with the distal clinical phenotype showed MRI and muscle pathology alterations indicating a concurrent muscle involvement. In one of these patients significant myopathic changes were associated with rimmed vacuolar pathology. CONCLUSIONS:We expand the clinical spectrum of SOD1 p.D12Y variant, including predominant lower motor neuron forms with long survival and classic forms with aggressive course. Some patients may have concomitant distal myopathy without other explanations. Given clinical, MRI and muscle pathology alterations, SOD1 should be considered in the differential diagnosis of molecularly undefined distal myopathies with rimmed vacuoles.

journal_name

Eur J Neurol

authors

Tasca G,Lattante S,Marangi G,Conte A,Bernardo D,Bisogni G,Mandich P,Zollino M,Ragozzino E,Udd B,Sabatelli M

doi

10.1111/ene.14246

subject

Has Abstract

pub_date

2020-07-01 00:00:00

pages

1304-1309

issue

7

eissn

1351-5101

issn

1468-1331

journal_volume

27

pub_type

杂志文章
  • Association between remote diffusion-weighted imaging lesions and cerebral small vessel disease in primary intracerebral hemorrhage.

    abstract:BACKGROUND AND PURPOSE:The aim of this study was to examine the association amongst remote diffusion-weighted imaging lesions (R-DWILs), imaging markers of cerebral small vessel disease (cSVD) and total cSVD burden in patients with primary intracerebral haemorrhage (ICH). METHODS:In total, 344 consecutive primary ICH ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13915

    authors: Xu XH,Ye XH,Li JW,Cai JS,Gao T,Zhang WJ,Zhao GH,Tong LS,Gao F

    更新日期:2019-07-01 00:00:00

  • Effect of controlled-release levodopa on the microstructure of sleep in Parkinson's disease.

    abstract:BACKGROUND:Dopamine is an important neurotransmitter in the regulation of the sleep-wake cycle, and parkinsonian patients suffer from prominent sleep abnormalities. Hence, the question arises whether the disrupted sleep pattern in Parkinson's disease (PD) is responsive to dopaminergic treatment. METHODS:Thirty-two pat...

    journal_title:European journal of neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1468-1331.2010.03213.x

    authors: Wailke S,Herzog J,Witt K,Deuschl G,Volkmann J

    更新日期:2011-04-01 00:00:00

  • Progressive visual loss due to a muslinoma--report of a case and review of the literature.

    abstract::Intracranial internal carotid artery (ICA) aneurysms are frequently treated either by microsurgical clipping of the aneurysm neck, by endovascular coiling of the aneurysm sac or by balloon occlusion of the parent vessel. For some broad-based aneurysms that may not be suitable for any of these options, microsurgical wr...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1046/j.1468-1331.2003.00546.x

    authors: Berger C,Hartmann M,Wildemann B

    更新日期:2003-03-01 00:00:00

  • Reliability and main findings of the flexible endoscopic evaluation of swallowing-Tensilon test in patients with myasthenia gravis and dysphagia.

    abstract:BACKGROUND AND PURPOSE:Diagnosis of pharyngeal dysphagia caused by myasthenia gravis (MG) based on clinical examination alone is often challenging. Flexible endoscopic evaluation of swallowing (FEES) combined with Tensilon (edrophonium) application, referred to as the FEES-Tensilon test, was developed to improve diagno...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13688

    authors: Im S,Suntrup-Krueger S,Colbow S,Sauer S,Claus I,Meuth SG,Dziewas R,Warnecke T

    更新日期:2018-10-01 00:00:00

  • Neuromyelitis optica-IgG in idiopathic inflammatory demyelinating disorders amongst Hong Kong Chinese.

    abstract:BACKGROUND:Idiopathic inflammatory demyelinating disorders (IIDD) affect the central nervous system. In classical multiple sclerosis (CMS), brain, optic nerves [optic neuritis (ON)] and spinal cord [acute transverse myelitis (ATM)] are affected. In neuromyelitis optica (NMO), optic nerves and spinal cord are predominan...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2008.02376.x

    authors: Chan KH,Ramsden DB,Yu YL,Kwok KH,Chu AC,Ho PW,Kwan JS,Lee R,Lim E,Kung MH,Ho SL

    更新日期:2009-03-01 00:00:00

  • Perimysial microarteriopathy in dermatomyositis with anti-nuclear matrix protein-2 antibodies.

    abstract:BACKGROUND AND PURPOSE:Dermatomyositis (DM) with anti-nuclear matrix protein-2 (NXP-2) antibodies usually shows multifocal ischaemic lesions in muscle. Here, we aimed to investigate the microarteriopathy underlying muscle ischaemia in anti-NXP-2-positive DM. METHODS:A total of 16 patients diagnosed with anti-NXP-2-pos...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14097

    authors: Liu Y,Zheng Y,Gang Q,Xie Z,Jin Y,Zhang X,Deng X,Hao H,Gao F,Zhang Z,Xiong H,Zhang W,Wang Z,Yuan Y

    更新日期:2020-03-01 00:00:00

  • Rapid eye movement sleep behaviour disorder and striatal dopamine depletion in patients with Parkinson's disease.

    abstract:BACKGROUND AND PURPOSE:Rapid eye movement sleep behaviour disorder (RBD) is related to striatal dopamine depletion. This study was performed to confirm whether clinically probable RBD (cpRBD) in patients with Parkinson's disease (PD) is associated with a specific pattern of striatal dopamine depletion. METHODS:A prosp...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13388

    authors: Chung SJ,Lee Y,Lee JJ,Lee PH,Sohn YH

    更新日期:2017-10-01 00:00:00

  • Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.

    abstract:BACKGROUND AND PURPOSE:Fabry disease is an X-linked disease, and enzyme-based screening methods are not suitable for female patients. METHODS:In total, 1000 young stroke patients (18-55 years, 661 with ischaemic stroke and 339 with hypertensive intracerebral hemorrhage) were recruited. The Sequenom iPLEX assay was use...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/ene.13775

    authors: Lee TH,Yang JT,Lee JD,Chang KC,Peng TI,Chang TY,Huang KL,Liu CH,Ryu SJ,Burlina AP

    更新日期:2019-03-01 00:00:00

  • Neuropsychological functions in systemic lupus erythematosus: a comparison with chronic whiplash patients.

    abstract::A comprehensive battery of neuropsychological tests sampling a wide range of cognitive functions was administrated to 36 patients with systemic lupus erythematosus (SLE), and a control group consisting of 31 patients with persistent symptoms after whiplash injury. Our results demonstrated significant group differences...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.1997.tb00323.x

    authors: Waterloo K,Omdal R,Mellgren SI,Husby G

    更新日期:1997-03-01 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

  • EFNS guideline on the drug treatment of migraine - report of an EFNS task force.

    abstract::Migraine is one of the most frequent disabling neurological conditions with a major impact on the patients' quality of life. To give evidence-based or expert recommendations for the different drug treatment procedures of the different migraine syndromes based on a literature search and an consensus in an expert panel....

    journal_title:European journal of neurology

    pub_type: 杂志文章,实务指引

    doi:10.1111/j.1468-1331.2006.01411.x

    authors: Members of the task force:.,Evers S,Afra J,Frese A,Goadsby PJ,Linde M,May A,Sándor PS

    更新日期:2006-06-01 00:00:00

  • Cardioembolic stroke secondary to non-bacterial endocarditis in Wegener disease.

    abstract::Wegener granulomatosis is a systemic vasculitis that mainly affects the upper and lower respiratory tract and the kidneys. The presence of an ischemic stroke in this disease is very rare. A 40-year-old man, smoker with cavitated lesions in both lungs, and inflammation in the nasal mucosa and vocal cords developed an i...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01726.x

    authors: Jiménez Caballero PE,Segura Martín T

    更新日期:2007-06-01 00:00:00

  • Trousseau's syndrome related to adenocarcinoma of the colon and cholangiocarcinoma.

    abstract::Malignancy-related thromboembolism, so-called Trousseau's syndrome, can present as acute cerebral infarction, non-bacterial thrombotic endocarditis (NBTE) and migratory thrombophlebitis. It is usually attributed to a cancer-related hypercoagulable state, chronic disseminated intravascular coagulopathy (DIC), or tumour...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2004.00814.x

    authors: Tasi SH,Juan CJ,Dai MS,Kao WY

    更新日期:2004-07-01 00:00:00

  • Anticipatory postural adjustments prior to step initiation are hypometric in untreated Parkinson's disease: an accelerometer-based approach.

    abstract:BACKGROUND AND PURPOSE:Anticipatory postural adjustments (APAs), prior to step initiation, are bradykinetic in advanced Parkinson's disease (PD) and may be one of the factors associated with 'start hesitation'. However, little is known about APAs in the early stage of PD. In this study, we determined whether body-worn ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2009.02641.x

    authors: Mancini M,Zampieri C,Carlson-Kuhta P,Chiari L,Horak FB

    更新日期:2009-09-01 00:00:00

  • Headache in primary Sjøgren's syndrome: a population-based retrospective cohort study.

    abstract:BACKGROUND:We investigated whether the prevalence of primary headaches was higher in patients with primary Sjøgren's syndrome (PSS) than in healthy individuals. METHODS:This retrospective cohort study included 71 patients with PSS (patients) based on the American European Consensus Classification criteria, and 71 age-...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12033

    authors: Tjensvoll AB,Harboe E,Gøransson LG,Beyer MK,Greve OJ,Kvaløy JT,Omdal R

    更新日期:2013-03-01 00:00:00

  • Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.

    abstract:BACKGROUND AND PURPOSE:Ataxia-telangiectasia (A-T) is a rare neurodegenerative disease, due to A-T mutated (ATM) gene mutations, which typically presents with signs of progressive neurological dysfunction, cerebellar ataxia and uncoordinated movements. A-T severely affects patients' quality of life. Successful treatmen...

    journal_title:European journal of neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/ene.13606

    authors: Cirillo E,Del Giudice E,Micheli R,Cappellari AM,Soresina A,Dellepiane RM,Pietrogrande MC,Dell'Era L,Specchia F,Pession A,Plebani A,Pignata C

    更新日期:2018-06-01 00:00:00

  • Brain atrophy in pure and complicated hereditary spastic paraparesis: a quantitative 3D MRI study.

    abstract::Hereditary spastic paraparesis (HSP) is a heterogeneous group of neurodegenerative disorders with progressive lower limb spasticity, categorized into pure (p-HSP) and complicated forms (c-HSP). The purpose of this study was to evaluate if brain volumes in HSP were altered compared with a control population. Brain volu...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2006.01380.x

    authors: Kassubek J,Sperfeld AD,Baumgartner A,Huppertz HJ,Riecker A,Juengling FD

    更新日期:2006-08-01 00:00:00

  • The expanding field of IgG4-mediated neurological autoimmune disorders.

    abstract::At least 13 different disease entities affecting the central nervous system, peripheral nervous system and connective tissue of the skin or kidneys are associated with immunoglobulin G4 (IgG4) immune reactivity. IgG4 has always been considered a benign, non-inflammatory subclass of IgG, in contrast to the well-known c...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/ene.12758

    authors: Huijbers MG,Querol LA,Niks EH,Plomp JJ,van der Maarel SM,Graus F,Dalmau J,Illa I,Verschuuren JJ

    更新日期:2015-08-01 00:00:00

  • A combination of total tau and neurofilaments discriminates between neurodegenerative and primary psychiatric disorders.

    abstract:BACKGROUND AND PURPOSE:Neuropsychiatric symptoms are commonly observed in neurodegenerative diseases. No biomarker is currently available to diagnose psychiatric conditions. As a consequence, the distinction between psychiatric and neurodegenerative disorders can be challenging in daily practice. METHODS:This retrospe...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14247

    authors: Fourier A,Formaglio M,Kaczorowski F,Mollion H,Perret-Liaudet A,Sauvee M,Quadrio I

    更新日期:2020-07-01 00:00:00

  • The Symbol Digit Modalities Test as sentinel test for cognitive impairment in multiple sclerosis.

    abstract:BACKGROUND AND PURPOSE:Cognitive impairment (CI) is found in about half of the multiple sclerosis (MS) population and is an important contributor to employment status and social functioning. CI is encountered in all disease stages and correlates only moderately with disease duration or Expanded Disability Status Scale ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12463

    authors: Van Schependom J,D'hooghe MB,Cleynhens K,D'hooge M,Haelewyck MC,De Keyser J,Nagels G

    更新日期:2014-09-01 00:00:00

  • Decreased serum selenium concentrations in patients with Parkinson's disease.

    abstract::Selenium is an essential component of the antioxidant enzyme glutathione peroxidase. The activity of this enzyme is reduced in the substantia nigra of patients with Parkinson's disease (PD), but the results of studies on erythrocytes are controversial. We compared the serum levels of selenium and the 24 h urinary sele...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.1995.tb00102.x

    authors: Jiménez-Jiménez FJ,Molina JA,Arrieta FJ,Aguilar MV,Cabrera-Valdivia F,Vázquez A,Jorge-Santamaría A,Seijas V,Fernández-Calle P,Martínez-Para MC

    更新日期:1995-04-01 00:00:00

  • Neurological involvement in antiphospholipid syndrome: clinical and instrumental evaluation in 21 consecutive cases.

    abstract::Twenty-one consecutive women with the antiphospholipid syndrome were investigated with a full cardiological and neurological examination including a semi-structured interview. They were also systematically studied with magnetic resonance imaging (MRI), transcranial Doppler (TCD), duplex sonography of neck vessels and ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.1995.tb00119.x

    authors: Anzola GP,Tincani A,Magoni M,Spatola L,Bonetti A

    更新日期:1995-07-01 00:00:00

  • Pituitary apoplexy: a transient benign presentation mimicking mild subarachnoid hemorrhage with negative angiography.

    abstract::We report on a patient who presented with isolated transient headache as the only manifestation of pituitary apoplexy. A high index of suspicion and MRI led to the diagnosis. Copyright 1998 Lippincott Williams & Wilkins ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1046/j.1468-1331.1998.550499.x

    authors: Hernandez A,Angeles Del Real M,Aguirre M,Vaamonde J,Gudin M,Ibanez R

    更新日期:1998-09-01 00:00:00

  • Evidence of an association between Chlamydia pneumoniae and cerebrovascular accidents.

    abstract::The authors report results of a retrospective pilot study showing a strong association between patients with stroke/TIA and the presence of circulating IgG and IgA antibodies to Chlamydia pneumoniae. These results support the hypothesis that chronic active or persistent infection may play a role in the mechanism of th...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1046/j.1468-1331.2003.00605.x

    authors: Bucurescu G,Stieritz DD

    更新日期:2003-07-01 00:00:00

  • The longevity gene Klotho and its CSF protein profiles as modifier for Parkinson´s disease.

    abstract:BACKGROUND:Parkinson´s disease (PD) has a large phenotypic variability, which may, at least partly, be genetically driven including alterations of gene products. Candidates might not only be proteins associated with disease risk but also pathways that play a role in aging. OBJECTIVE:To evaluate phenotype-modifying eff...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14733

    authors: Zimmermann M,Köhler L,Kovarova M,Lerche S,Schulte C,Wurster I,Machetanz G,Deuschle C,Hauser AK,Gasser T,Berg D,Schleicher E,Maetzler W,Brockmann K

    更新日期:2021-01-15 00:00:00

  • Cognitive frailty and falls in Chinese elderly people: a population-based longitudinal study.

    abstract:BACKGROUND AND PURPOSE:Falling is considered an important public health problem among older people. A recent cross-sectional study suggested that cognitive frailty (CF) is associated with falls. We aimed to explore whether CF is a risk factor for falls in a population-based longitudinal study. METHODS:Using data from ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14572

    authors: Ma Y,Li X,Pan Y,Zhao R,Wang X,Jiang X,Li S

    更新日期:2021-02-01 00:00:00

  • Cranial nerve involvement in typical and atypical chronic inflammatory demyelinating polyneuropathies.

    abstract:BACKGROUND AND PURPOSE:Cranial nerve palsy is occasionally present in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), but its prevalence, characteristics and relations with the CIDP subtypes have rarely been investigated. The aim of this study was to systematically assess cranial nerve involveme...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14497

    authors: Shibuya K,Tsuneyama A,Misawa S,Suichi T,Suzuki Y,Kojima Y,Nakamura K,Kano H,Prado M,Kuwabara S

    更新日期:2020-12-01 00:00:00

  • Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

    abstract:BACKGROUND AND PURPOSE:The relative frequency of the different autosomal dominant cerebellar ataxia (ADCA) varies widely amongst different geographic locations. Here we describe a series of 45 ADCA families from Portugal. METHODS:Patients with progressive cerebellar dysfunction of autosomal dominant transmission under...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2009.02757.x

    authors: Vale J,Bugalho P,Silveira I,Sequeiros J,Guimarães J,Coutinho P

    更新日期:2010-01-01 00:00:00

  • A systematic review of the epidemiology of status epilepticus.

    abstract::Population-based data on the incidence, aetiology, and mortality associated with status epilepticus (SE) are required to develop preventative strategies for SE. Through a systematic review, we aimed to assess the methodological quality as well as similarities, and differences between available population based studies...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1468-1331.2004.00943.x

    authors: Chin RF,Neville BG,Scott RC

    更新日期:2004-12-01 00:00:00

  • Increased levels of inflammatory chemokines in amyotrophic lateral sclerosis.

    abstract:BACKGROUND AND PURPOSE:Amyotrophic lateral sclerosis (ALS) is classically assumed to be a neurodegenerative disorder. Inflammation has been observed in CNS tissue in ALS patients. We investigated the expression and prognostic relevance of proinflammatory chemokines in ALS. METHODS:We analyzed nine chemokines, eotaxin,...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2009.02560.x

    authors: Kuhle J,Lindberg RL,Regeniter A,Mehling M,Steck AJ,Kappos L,Czaplinski A

    更新日期:2009-06-01 00:00:00