Abstract:
BACKGROUND:Most of the previously described pathogenic mutations in desmin are located in highly conserved α-helical domains that play an important role in intermediate filament assembly. The role of the C-terminus non-α-helical 'tail' domain is much less investigated and until recently mutations in this domain have been implicated in only a few patients. The majority of reported desminopathy cases caused by the tail mutations were sporadic, creating a representation bias regarding the disease frequency and phenotypic characteristics. METHODS:We performed detailed genotype-phenotype analysis of autosomal dominant desminopathy associated with tail domain mutations in a four-generation autosomal dominant family with 16 members affected by a progressive cardiac and/or skeletal myopathy caused by a c.1346A>C (p.Lys449Thr) mutation located in the tail domain of desmin. RESULTS:Phenotypic features in patients with tail domain mutations are similar to those in patients with mutations localized in the 1B and 2B α-helical domains. CONCLUSION:We recommend that the tail domain is searched for mutations as intensely as desmin coil domains which until recently were considered to be more 'functional'.
journal_name
Eur Neuroljournal_title
European neurologyauthors
Maddison P,Damian MS,Sewry C,McGorrian C,Winer JB,Odgerel Z,Shatunov A,Lee HS,Goldfarb LGdoi
10.1159/000341617subject
Has Abstractpub_date
2012-01-01 00:00:00pages
279-86issue
5eissn
0014-3022issn
1421-9913pii
000341617journal_volume
68pub_type
杂志文章abstract::The association of anaemia and gastro-intestinal abnormalities with disorders of the brain, spinal cord, and peripheral nerves has been recognized since the mid 19th century. In early reports interpretable as subacute combined degeneration, anaemia was overlooked, and conversely in Addison's and other early reports of...
journal_title:European neurology
pub_type: 历史文章,杂志文章
doi:10.1159/000131715
更新日期:2008-01-01 00:00:00
abstract:AIMS:This study was designed to investigate if folate treatment is able to reverse the phenytoin-induced deficiency of salivary immunoglobulin A (IgA). METHODS AND MATERIAL:Twenty-five epileptic patients who had been under phenytoin therapy for at least the last 6 months were randomly selected and subjected to folic a...
journal_title:European neurology
pub_type: 杂志文章,随机对照试验
doi:10.1159/000121419
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Intravenous thrombolysis (IVT) with urokinase is the standard reperfusion therapy for acute cerebral infarction (ACI) in China. Only about 30% patients who use urokinase for IVT can recanalize. Therefore, this study aimed to analyze the influencing factors of recanalization after IVT using urokinase in ACI p...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000507288
更新日期:2020-01-01 00:00:00
abstract::Missed cerebral aneurysms in CT-negative patients can have serious implications. We set out to determine the usefulness of cerebrospinal fluid (CSF) spectrophotometry and the individual significance of CSF oxyhaemoglobin, bilirubin and methaemoglobin in 463 CT scan-negative patients with suspected subarachnoid haemorr...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000082162
更新日期:2004-01-01 00:00:00
abstract::A 32-year-old patient with a lifelong history of epileptic attacks is described. A skull X-ray showed a round calcified nonhomogenous left frontotemporal mass. A CT scan confirmed its presence, as well as displacement of the left lateral and the third ventricles. At surgery a calcified inactive hydatid cyst was totall...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000116120
更新日期:1987-01-01 00:00:00
abstract:BACKGROUND:Tetrahydrocannabinol:cannabidiol (THC:CBD) oromucosal spray (Sativex®) is an add-on therapy for moderate-to-severe multiple sclerosis (MS)-related drug-resistant spasticity (MSS). AIM:The MOVE-2 EU study collected data from everyday clinical practice concerning the effectiveness and tolerability of THC:CBD....
journal_title:European neurology
pub_type: 杂志文章,多中心研究
doi:10.1159/000449413
更新日期:2016-01-01 00:00:00
abstract::40 patients with multiple sclerosis were investigated by magnetic resonance imaging (MRI) and computer tomography (CT). Additionally, cerebrospinal fluid (CSF) findings and evoked potentials (EPs; visual, brainstem) were evaluated. MRI findings were abnormal in 85% of the patients, whilst CT scan showed pathological c...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000116269
更新日期:1988-01-01 00:00:00
abstract::The authors report a case of a giant aneurysm of the distal portion of the posterior inferior cerebellar artery presenting the classical picture of a tumor of the posterior fossa. CT scan of a giant aneurysm reveals the clear margin and high density area of aneurysm wall, and the homogeneous and high density area of t...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115108
更新日期:1979-01-01 00:00:00
abstract::Current treatment options for restless legs syndrome (RLS), based on the American Academy of Sleep Medicine practice parameters, favor dopaminergic agents. The drug of first choice is levodopa, which is now licensed for RLS in two European countries. However, the short duration of action and augmentation of symptoms u...
journal_title:European neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1159/000058050
更新日期:2001-01-01 00:00:00
abstract::A double-blind controlled trial was performed on 6 patients affected with Steinert's disease in order to evaluate the efficacy of two different dosages of diphenylhydantoin (PHT, 200 and 300 mg/day) and carbamazepine (CBZ, 600 and 800 mg/day) on the myotonic afterdischarge. Both dosages of PHT and CBZ induced a signif...
journal_title:European neurology
pub_type: 临床试验,杂志文章
doi:10.1159/000115546
更新日期:1983-01-01 00:00:00
abstract::To clarify the function of human atrial natriuretic peptide (hANP) in the cerebrospinal fluid (CSF), we examined hANP levels in the CSF of patients with various neurological diseases. The subjects were 16 controls without neurological disease and 45 patients with neurological disease. The 45 patients with neurological...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000113166
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Profound cellular and biochemical remodeling processes occur in the brain following an ischemic stroke, raising the possibility that we may be able to promote neurological recovery by harnessing the brain's endogenous recovery processes with pharmacological or cell-based therapies. There is a compelling body...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000365171
更新日期:2014-01-01 00:00:00
abstract::Cavernomas are vascular malformations mostly observed in the central nervous system. They occur in sporadic and familial forms. Familial forms are characterized by the presence of multiple lesions, an autosomal dominant pattern of inheritance and possible de novo lesions. We report two sporadic cases whose follow-up s...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000052100
更新日期:2001-01-01 00:00:00
abstract::The clinical severity of EAE is enhanced by pre-treatment with distemper, measles and BCG vaccine, measles vaccine gives a more severe onset of disease. Rubella vaccine and TAB leads to mild disease which recurs on re-treatment with the appropriate vaccine. These findings and their possible significance in MS are brie...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114898
更新日期:1977-01-01 00:00:00
abstract::The pathogenesis of Parkinson's disease (PD) has been linked to oxidative-mediated events including increased monoamine oxidase (MAO) and free-radical generation. We are investigating the ability of the MAO inhibitor, selegiline (deprenyl), and of the free-radical scavenger, tocopherol, to delay the onset of disabilit...
journal_title:European neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1159/000116869
更新日期:1992-01-01 00:00:00
abstract:AIMS:We conducted this study to investigate the independent association of medial temporal atrophy (MTA) and white matter hyperintensities (WMH) with cognitive impairments of Alzheimer's disease (AD) patients and the interaction between MTA and WMH. METHODS:From 13 centers, a total of 216 AD patients were consecutivel...
journal_title:European neurology
pub_type: 杂志文章,多中心研究
doi:10.1159/000329277
更新日期:2011-01-01 00:00:00
abstract::Familial cases of HTLV-I-associated myelopathy (HAM) and adult T-cell leukemia (ATL), developing in a daughter and father, respectively, are reported. The coexistence of both diseases in a family has not been reported before. This supports the recent findings that ATL and HAM may be brought about by an identical virus...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000116373
更新日期:1989-01-01 00:00:00
abstract:BACKGROUND:Dysnatremia, which is associated with increased mortality in general intensive care units (ICU), has not been thoroughly studied in neurologic ICU (NICU). METHODS:Prevalence of dysnatremia was retrospectively assessed. The multivariable binary logistic regression model was used to determine the influence of...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000368353
更新日期:2015-01-01 00:00:00
abstract:PRIMARY OBJECTIVE:To determine whether the ipsilateral cortex surrounding the lesion or the non-injured contralateral cortex is important for motor recovery after brain damage in the photochemically initiated thrombosis (PIT) model. RESEARCH DESIGN:We induced PIT in the sensorimotor cortex in rats and examined the rec...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000095700
更新日期:2006-01-01 00:00:00
abstract::26 adult epileptic patients with diffuse slow spikes and waves and start of seizures after the age of 6 years were analyzed. The seizure spectrum encompasses generalized and focal seizures. The occurrence of several types of seizures is the rule. Epileptic drop attacks are most characteristic. Atonic, tonic and myoclo...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115581
更新日期:1983-01-01 00:00:00
abstract::We report a 60-year-old right-handed Japanese man who showed an isolated persistent typing impairment without aphasia, agraphia, apraxia or any other neuropsychological deficit. We coined the term 'dystypia' for this peculiar neuropsychological manifestation. The symptom was caused by an infarction in the left frontal...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000047971
更新日期:2002-01-01 00:00:00
abstract::Seventy-eight asymptomatic HIV-seropositive (aHIV) subjects were examined by means of an extensive neuropsychological test battery in comparison with 32 HIV-seronegative controls. They were also tested with regard to CD4+ and serum p24 antigen. Fifty-six of them completed a clinical follow-up of 12 up to 36 months and...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000117228
更新日期:1996-01-01 00:00:00
abstract::The English electrophysiologist Edgar Adrian (1889-1977) was the recipient of the Nobel Prize for physiology in 1932 for his research on the functions of neurons. During World War I, at Queen Square in London, he devised an intensive electrotherapeutic treatment for shell-shocked soldiers. The procedure, developed wit...
journal_title:European neurology
pub_type: 历史文章,杂志文章
doi:10.1159/000486762
更新日期:2018-01-01 00:00:00
abstract::The aim of this study was to assess the impact of cardiac autonomic derangement on gender-associated functional outcome of patients with subacute ischemic stroke undergoing a hospital-based rehabilitation program. The study population included 126 consecutive first-ever stroke survivors (mean age 59.7 +/- 11.6 years)....
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000287583
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:The pathogenesis of card game-induced reflex epilepsy has not been determined so far. The aim of this study was to evaluate structural abnormalities using voxel-based morphometry (VBM) analysis, which may give some clue about the pathogenesis in card game-induced reflex epilepsy. METHODS:The 3 subjects were...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000447537
更新日期:2016-01-01 00:00:00
abstract::A case of peripheral neuropathy due to styrene is described. The diagnosis of peripheral neuropathy was confirmed by a motor-nerve conduction study and sural nerve biopsy. ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000116046
更新日期:1986-01-01 00:00:00
abstract::Early traumatic epilepsy, whose frequency is rather high, especially in children, is usually characterized by focal motor seizures (57%) or by generalized seizures (43%). The association of both running and laughing fits in the same patient on the contrary is quite exceptional, as only three cases have been reported i...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114830
更新日期:1977-01-01 00:00:00
abstract::3 out of 24 patients with mitral valve prolapse (MVP), mean age 25.7 +/- 3.1 displayed markedly thickened redundant and shaggy mitral leaflets in the two-dimensional echocardiogram. The anterior leaflet appeared in the parasternal long axis plane club-shaped in diastole. These three female patients had a history of is...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115766
更新日期:1985-01-01 00:00:00
abstract::Transient ischemic attacks (TIAs) are warning episodes predicting that such patients are at high risk for stroke which potentially could be life-threatening or leave an individual with substantial disability. TIAs result from large or small vessel disease, cardiogenic embolic events and hematological abnormalities. Th...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000052065
更新日期:1998-01-01 00:00:00
abstract::20 patients who had clinical symptoms and/or signs of compression of the 7th and/or 6th cervical roots were examined. Motor and sensory nerve conduction velocities, velocities in the proximal segment of the median nerve determined by measuring F-wave latencies, cervical somatosensory evoked potentials, and needle elec...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115592
更新日期:1983-01-01 00:00:00