Abstract:
BACKGROUND AND PURPOSE:CACNA1S encodes Cav 1.1, a voltage sensor for muscle excitation-contraction coupling, which activates the ryanodine receptor 1 (RYR1) leading to calcium release from the sarcoplasmic reticulum. CACNA1S mutations cause hypokalemic periodic paralysis, malignant hyperthermia and congenital myopathy. RYR1 mutations result in congenital myopathy, malignant hyperthermia and rhabdomyolysis. METHODS:The aim was to describe a novel phenotype associated with a CACNA1S variant at a site previously linked to hypokalemic periodic paralysis. RESULTS:The patient presented with fluctuating asymptomatic creatine kinase elevation after an episode of rhabdomyolysis but has no history of periodic paralysis. His muscle biopsy showed core-like structures occurring mainly in type 2 fibers. He carries a novel Cav 1.1 variant (p.Arg528Leu) affecting a highly conserved amino acid. Different mutations at the same location cause hypokalemic periodic paralysis. CONCLUSION:This case underscores the similarity between the phenotypes caused by mutations in two functionally linked proteins, RYR1 and Cav 1.1.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Anandan C,Cipriani MA,Laughlin RS,Niu Z,Milone Mdoi
10.1111/ene.13528subject
Has Abstractpub_date
2018-02-01 00:00:00pages
417-419issue
2eissn
1351-5101issn
1468-1331journal_volume
25pub_type
杂志文章abstract:BACKGROUND AND PURPOSE:The purpose of this study was to analyse the long-term impact of Guillain-Barré syndrome (GBS) on quality of life, and the relationship between clinical variables at disease onset and symptoms at follow-up to general health status. METHODS:Forty-two GBS patients were examined at median 6 years a...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02311.x
更新日期:2008-12-01 00:00:00
abstract::Cytokines have a central role in multiple sclerosis (MS) pathogenesis and may contribute to the aetiology of MS. A polymorphism in the IFNA17 gene with an allele carrying a pre-mature stop codon has been suggested to convey a 26-fold increased risk for MS. We investigated the possible association between this polymorp...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2007.01953.x
更新日期:2007-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:People with multiple sclerosis (MS) have to face important decisions with regard to their medical treatment. The aim of this study was to evaluate whether a targeted cognitive training reduces framing effects and thus improves medical judgments. METHODS:This was a randomized, double-blind, cross...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ene.13778
更新日期:2019-01-01 00:00:00
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
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:High levels of glutamic acid decarboxylase (GAD)-ab were initially described in patients with stiff person syndrome, and have since also been observed in patients with other neurological diseases. Temporal lobe epilepsy (TLE) seems to be specially associated. Our purpose is to describe the preval...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2011.03609.x
更新日期:2012-06-01 00:00:00
abstract::We here present the case of a patient with a sleep disturbance attributed to the exploding head syndrome, recently redefined as 'episodic cranial sensory shock'. The patient, who suffered with concomitant migraine, was treated for headache prevention with daily single-pulse transcranial magnetic stimulation. Following...
journal_title:European journal of neurology
pub_type:
doi:10.1111/ene.14747
更新日期:2021-01-18 00:00:00
abstract::Jaw-opening dystonia (oromandibular dystonia with jaw-opening; Brueghel's syndrome) is a rare condition, and only a limited number of cases have been reported in the literature. However, many patients may remain undiscovered or misdiagnosed, like a patient described previously. A case (40-year-old man) of jaw-opening ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.2003.00668.x
更新日期:2003-11-01 00:00:00
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
更新日期:2004-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Anosognosia refers to a deficit of self-awareness or impaired insight for cognitive and behavioral problems. Cognitive anosognosia was explored in de novo patients with Parkinson's disease (PD) and its relationship to cognitive function and neuropsychiatric symptoms was investigated. METHODS:The...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14188
更新日期:2020-06-01 00:00:00
abstract::To determine whether changes in specific regions of the brain can contribute to the development of depression in patients with multiple sclerosis (MS). We prospectively studied 90 patients with clinically definite MS. Disability, independence, cognitive performances, and depressive and anxiety symptoms have been asses...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.2002.00442.x
更新日期:2002-09-01 00:00:00
abstract::Frontotemporal dementia (FTD) often presents with behavioural changes warranting treatment with antipsychotic medications. It is known that patients with Lewy body dementia are sensitive to developing extrapyramidal symptoms (EPS) from these medications. This has not been emphasized in FTD. We report three patients wi...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2007.02032.x
更新日期:2008-02-01 00:00:00
abstract:BACKGROUND:Peritumoral brain edema in glioblastoma patients is a frequently encountered phenomenon that strongly contributes to neurological signs and symptoms. The role of peritumoral edema as a prognostic factor is controversial. MATERIALS AND METHODS:This multi-centre clinical retrospective study included 110 patie...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02613.x
更新日期:2009-07-01 00:00:00
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
更新日期:2000-01-01 00:00:00
abstract::In this report, we present the clinical and pathological details of a kindred of four individuals with a novel missense mutation (V272A) of the presenilin 1 gene (PSEN1) that experienced a subcortical dementia. The age of onset of symptoms ranged 26-36-year old, with an age at death of 36-46 years. Initial symptom was...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2004.00865.x
更新日期:2004-10-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The incidence, underlying physiopathology, features and association with lesion topography of visual hallucinations in acute stroke have scarcely been investigated. METHODS:Patients with a diagnosis of acute stroke (ischaemic or haemorrhagic) in any vascular territory, admitted within 24 h after...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13278
更新日期:2017-05-01 00:00:00
abstract::The aim of this narrative review is to evaluate the pathogenesis, clinical features, diagnosis, treatment and prognosis of intracranial artery dissection (IAD). IAD is a rare and often unrecognized cause of stroke or subarachnoid haemorrhage (SAH), especially in young adults. Two types of IAD can be identified: a subi...
journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1111/ene.12384
更新日期:2014-06-01 00:00:00
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 v...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14246
更新日期:2020-07-01 00:00:00
abstract::The authors performed neurological, visual evoked potentials (VEP) and electroneurography (ENG) examinations on three groups of workers with occupational exposure to mercury vapors (Hg(0)), and on a control group. The exposure of dental professionals (n = 36) was mild, that of chloralkali plant workers (n = 36) was in...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1468-1331.1999.650571.x
更新日期:1999-09-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Conversion disorder (CD), or functional neurological disorder, is manifested as a neurological disturbance that is not macroscopically visible on clinical structural neuroimaging and is instead ascribed to underlying psychological stress. Known for many years in neuropsychiatry, a comprehensive e...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13613
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Frontotemporal dementia (FTD) is a degenerative disorder characterized, in its frontal variant, by psychiatric onset, deficits in executive functions and sparing of memory and visuo-spatial abilities. Studies on visuo-spatial abilities in FTD and Alzheimer's disease (AD) have mainly focused on co...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02128.x
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The known monogenic forms of stroke are rare. The aim of this study was to analyze pedigrees of young stroke patients regarding possible monogenic cerebrovascular disease and to evaluate the possibility of genetic stroke in these families. This may contribute to a better understanding of disease ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12881
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Intracerebral hemorrhage (ICH) is a devastating cerebrovascular disorder with high morbidity and mortality. Minocycline is a matrix metalloproteinase-9 (MMP-9) inhibitor that may attenuate secondary mechanisms of injury in ICH. The feasibility and safety of minocycline in ICH patients were evalua...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ene.13403
更新日期:2017-11-01 00:00:00
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
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:There is an urgent need for early predictive markers for the course of disease in prodromal α-synucleinopathies such as idiopathic rapid eye movement (REM) sleep behaviour disorder. Autonomic cardiac/vascular dysfunction is a prominent feature in advanced α-synucleinopathies, but its diagnostic v...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12957
更新日期:2016-05-01 00:00:00
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
更新日期:2004-12-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The differences in the characteristics of thymus histology, coexisting autoimmune diseases and related autoantibodies between anti-muscle-specific receptor tyrosine kinase (MuSK)-antibody (Ab)-positive myasthenia gravis (MG) patients, and anti-acetylcholine receptor (AChR)-Ab-positive MG patients...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12169
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Despite advances in the understanding of Huntington's disease (HD), treatment remains symptomatic. Multidisciplinary rehabilitation, however, appears to impact disease progression. Here we show the feasibility, safety and efficacy of a 9-month multidisciplinary rehabilitation programme in a small...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ene.12053
更新日期:2013-09-01 00:00:00
abstract::The muscle overactivity seen in spasticity results in limb stiffness and muscle spasm, to which there is both a neurogenic and a biomechanical component. Spasticity does not always cause harm and can assist in the rehabilitation process enabling a patient to stand when their limb weakness would not otherwise allow it....
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.2002.0090s1048.x
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Migraine and metabolic syndrome have been reported to coexist to a marked degree, especially in women migraine patients, but the relationship between these two conditions is still unclear. This study was performed to evaluate the association of headache characteristics and its comorbidities with ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12732
更新日期:2015-08-01 00:00:00
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
更新日期:2020-02-01 00:00:00