Abstract:
BACKGROUND AND PURPOSE:CACNA1A encodes the α1 subunit of the neuronal calcium channel P/Q. CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). A clear-cut genotype-phenotype correlation is often lacking since clinical manifestations may overlap. Several case reports have described cognitive and behavioral features in CACNA1A disorders, but studies in larger case series are lacking. METHODS:Genetically confirmed CACNA1A cases were retrieved from the database of the ataxia outpatient clinic of the Department of Neurology at Innsbruck Medical University. Clinical charts and neuropsychological test results were retrospectively analyzed. In addition, a review of the literature including only genetically confirmed cases was performed. RESULTS:Forty-four CACNA1A cases were identified in our database. Delayed psychomotor milestones and poor school performance were described in seven (four FHM1, three EA2) and eight (three FHM1, five EA2) patients, respectively. Psychiatric comorbidities were diagnosed in eight patients (two FHM1, six EA2). Neuropsychological testing was available for 23 patients (11 FHM1, 10 EA2, two SCA6). Various cognitive deficits were documented in 21 cases (all patients except one SCA6). Impairments were predominantly seen in figural memory, visuoconstructive abilities and verbal fluency. In the literature, an early psychomotor delay is described in several children with EA2 and FHM1, whilst reports of cognitive and psychiatric findings from adult cases are scarce. CONCLUSIONS:Neuropsychiatric manifestations are common in episodic CACNA1A disorders. In the case of otherwise unexplained developmental delay and a positive family history, CACNA1A mutations should be considered in the differential diagnosis.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Indelicato E,Nachbauer W,Karner E,Eigentler A,Wagner M,Unterberger I,Poewe W,Delazer M,Boesch Sdoi
10.1111/ene.13765subject
Has Abstractpub_date
2019-01-01 00:00:00pages
66-e7issue
1eissn
1351-5101issn
1468-1331journal_volume
26pub_type
杂志文章abstract::The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington's disease gene, we review the milestones of genetic discoveries in movement disorde...
journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1111/ene.14294
更新日期:2020-08-01 00:00:00
abstract:BACKGROUND AND PURPOSE:To assess the efficacy and safety of olesoxime, a molecule with neuroprotective properties, in patients with amyotrophic lateral sclerosis (ALS) treated with riluzole. METHODS:A double-blind, randomized, placebo-controlled, multicenter trial of 18 months' duration was conducted in 512 subjects, ...
journal_title:European journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ene.12344
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE: Multiple sclerosis (MS) has been associated with increased mortality rates. However, influence of lifestyle parameters remains unknown, and inconsistencies exist regarding findings for causes of death. METHODS: We conducted a population-based cohort study using the General Practice Research D...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2012.03668.x
更新日期:2012-07-01 00:00:00
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
更新日期:2009-09-01 00:00:00
abstract::The levels of malondialdehyde (MDA), glutathione peroxidase (GSH-Px) and superoxide dismutase (SOD-1) were measured in the red blood cells (RBC) of 34 patients with acute ischemic hemispheric stroke on the first and seventh day after their stroke onset, and compared with 30 control individuals matched for sex, age and...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.2001.00166.x
更新日期:2001-01-01 00:00:00
abstract::Post-marketing surveillance studies are needed to assess the long-term safety, compliance and clinical efficacy of interferon beta-1a (IFNbeta-1a) therapy in multiple sclerosis (MS) patients. The goals of this study were to (i) assess the safety, compliance and clinical efficacy of long-term intramuscular (i.m.) IFNbe...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/j.1468-1331.2006.01422.x
更新日期:2006-09-01 00:00:00
abstract:BACKGROUND:Up to now, there are few systematic studies in a sufficient number of patients with lesions involving the insular cortex (IC) examining whether damage of the IC is directly related to dysarthria. Thus, this is the first study applying modern voxel-lesion behaviour mapping (VLBM) aimed to examine whether the ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2011.03473.x
更新日期:2011-12-01 00:00:00
abstract::Multiple sclerosis (MS) is a chronic and potentially highly disabling disorder with considerable social impact and economic consequences. It is the major cause of non-traumatic disability in young adults. The social costs associated with MS are high because of its long duration, the early loss of productivity, the nee...
journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1111/j.1468-1331.2006.01342.x
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Portugal has been identified as one of the countries with a high prevalence of LRRK2-G2019S, considered to be the most frequent known cause of familial and sporadic Parkinson's disease (PD). The aim of this study was to evaluate the prevalence of PD in Portugal using a door-to-door methodology. ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13273
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND AND PURPOSE:There is large variability in the diagnostic approach and clinical management in functional movement disorders (FMD). This study aimed to examine whether opinions and clinical practices related to FMD have changed over the past decade. METHODS:Adapted from a 2008 version, we repeated the survey ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14200
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The severity of Wilson's disease (WD) is linked to free copper accumulating in the liver and brain. Exchangeable copper (CuEXC) is a new technique to determine plasmatic copper and is useful in the diagnosis of WD. It is hypothesized that it may also enable a good evaluation of extra-hepatic invo...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13171
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Corticobasal syndrome (CBS) is a clinical entity characterized by higher cortical dysfunctions associated with asymmetric onset of levodopa-resistant parkinsonism, dystonia and myoclonus. One of the most typical and distressful features of CBS is limb apraxia, which affects patients in their ever...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12748
更新日期:2015-09-01 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:Soluble ST2 (sST2) is a promising biomarker in inflammation, atherosclerosis and cardiovascular diseases. We investigated the association between serum sST2 and poor outcome in patients with transient ischaemic attack (TIA)/ischaemic stroke. METHODS:Patients within 24 h after onset and with meas...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14419
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Our aim was to identify early imaging surrogate markers of clinical progression in patients after the first demyelinating event suggestive of multiple sclerosis treated with weekly intramuscular interferon β-1a. In a prospective observational study, the predictive role of baseline and 6-month cha...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12716
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Elevated total homocysteine (tHcy) levels may be caused by vitamin B12 deficiency and are linked to Alzheimers disease (AD) in some studies, although the evidence is mixed. Another marker of vitamin B12 deficiency, holo-transcobalamin (holo-TC), has not been studied in a prospective setting. OBJECTIVE:To in...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02590.x
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Isolated rapid eye movement sleep behaviour disorder (iRBD) is a parasomnia, recently recognized as a risk factor for progression to Parkinson's disease, dementia with Lewy body and multiple system atrophy. Biomarker studies in iRBD are relevant due to lack of evidence in this condition. The iden...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14215
更新日期:2020-07-01 00:00:00
abstract::Cocaine abuse is a well known cause of cerebrovascular complications. An inflammatory vasculopathy hypothesis has been proposed, but the medical literature has only reported a few pathological confirmations. We report a case with a biopsy demonstrating cerebral inflammatory vascular changes that are associated with co...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.1998.510103.x
更新日期:1998-01-01 00:00:00
abstract::Chronic obstructive pulmonary disease (COPD) is a risk factor for cardiovascular disorders and different types of stroke. The present retrospective study investigates whether COPD is also a risk factor for the development of seizures in stroke patients. The study population consisted of 237 patients with stroke-relate...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2007.01829.x
更新日期:2007-09-01 00:00:00
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
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND:The burden of multiple sclerosis (MS) includes fatigue, depression and worsening of health-related quality of life (HRQOL). These changes have not been yet measured in neuromyelitis optica (NMO). Our aim was to assess the HRQOL, fatigue and depression in NMO. METHODS:We administered French validated self-qu...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1468-1331.2010.03252.x
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Decompressive craniectomy is used regularly in traumatic brain injury (TBI) and malignant middle cerebral artery infarction. Its benefits for other causes of non-traumatic brain swelling, if any, are unclear, especially after a devastating primary event. METHODS:We evaluated the outcomes as well as treatmen...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2010.03162.x
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyopathy and liver disease. The aim of this study was to describe the clinical and genetic ma...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14402
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:For Parkinson's disease (PD), an extended-release (ER) pramipexole formulation taken once daily, has shown efficacy, safety, and tolerability resembling those of immediate-release (IR) pramipexole taken three times daily. The present study assessed, in advanced PD, the success of an overnight swi...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1468-1331.2012.03822.x
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Cerebrospinal fluid (CSF) removal improves clinical symptoms of many patients with idiopathic normal-pressure hydrocephalus (iNPH). The aim of this study was to investigate the correlation of changes in the optic nerve sheath diameter (ONSD) with patient responses to CSF removal. METHODS:Transor...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13225
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Botulinum toxin type A (BoNT/A) is a highly effective and well-tolerated treatment for focal dystonias. The BoNT/A in Botox and Dysport is part of a high-molecular-weight complex that contains hemagglutinins and other non-toxic proteins, whilst Xeomin is a highly purified BoNT/A free of such comp...
journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1468-1331.2009.02878.x
更新日期:2009-12-01 00:00:00
abstract::Hypoalbuminemia is associated with increased risk of infections. The aim of this study was to determine if serum albumin level is an independent predictor of nosocomial pneumonia in stroke patients. Data of 705 consecutive ischemic stroke patients admitted within 24 h after stroke onset were analyzed retrospectively. ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01210.x
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Sporadic amyotrophic lateral sclerosis (sALS) is a disease with a focal clinical onset and contiguous spread. We examined patterns of disease spread following symptoms onset in sALS and whether the pattern of spread predicted survival. METHODS:Review of medical records (2003-2009) at London Onta...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1468-1331.2011.03616.x
更新日期:2012-06-01 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::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
更新日期:2002-05-01 00:00:00