Abstract:
BACKGROUND AND PURPOSE:Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of patients suffering from cerebral venous thrombosis (CVT). METHODS:We performed a retrospective genetic study comparing 100 healthy controls to 54 patients referred to our hemostasis unit after CVT occurrence. We compared the distribution of three PZ gene polymorphisms that may influence PZ plasma levels: A-13G in the promoter and G79A in intron F were tested using previously described techniques, and we developed a technique to evaluate the G-103A in intron A. RESULTS:The G79A polymorphism was significantly more frequent in patients than in controls (p = 0.012): the presence of at least one A allele led to an odds ratio of 2.57 with a 95 % confidence interval of 1.23-5.34. The A-13G polymorphism also showed a nonsignificant trend towards a higher prevalence in patients. CONCLUSION:The G79A polymorphism of the PZ gene was shown to be a new independent risk factor for cerebral venous thrombosis. Nevertheless, these results have to be confirmed by a prospective study including plasma PZ evaluation.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Le Cam-Duchez V,Bagan-Triquenot A,Barbay V,Mihout B,Borg JYdoi
10.1007/s00415-008-0958-8subject
Has Abstractpub_date
2008-10-01 00:00:00pages
1521-5issue
10eissn
0340-5354issn
1432-1459journal_volume
255pub_type
杂志文章abstract::Cerebral venous thrombosis (CVT) affects mainly working-aged individuals. Functional recovery after CVT is generally considered good with about 3/4 of patients achieving short-term independence. However, vascular events, long-term functional outcome, and employment after CVT remain poorly investigated. We identified c...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7996-9
更新日期:2016-03-01 00:00:00
abstract::Multiple system atrophy (MSA) manifests as a combination of dysautonomia and motor symptoms/signs. However, rare cases presenting with autonomic failures in absence of motor symptoms/signs until their deaths have been reported and are referred to as non-motor MSA. To clarify pathological findings underlying non-motor ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8604-y
更新日期:2017-11-01 00:00:00
abstract::The electrically elicited blink reflex was investigated in 25 patients with ischaemic lesions of the pons or the medulla oblongata. Only patients with a lesion on MRI appropriate to the clinical syndrome were included. Twenty patients had an infarction of the pons, bilateral in 5. Additional 5 patients had an infarcti...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00870670
更新日期:1993-11-01 00:00:00
abstract::The INCOMIN study (INdependent COMparison of INterferons) lends further support to the growing body of evidence that both dose and frequency of interferon beta (IFNbeta) administration are important in the treatment of multiple sclerosis (MS). High-dose, high-frequency IFNbeta (IFNbeta-1b 250 microg eod sc and IFNbeta...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-005-2016-0
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND:Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a disease modifying role. SMA is classified into four different subtypes based on age of onset and clinical course (SMA types 1-4). The natural history of early onse...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0929-0
更新日期:2008-09-01 00:00:00
abstract::Deep brain stimulation of the subthalamic nucleus (STN) is an effective treatment modality for motor symptoms of advanced Parkinson's disease. Recent studies focus on exploring its possible effects on cognition and behavior. We present a case with acute cognitive dysfunction due to misalignment of the electrodes to th...
journal_title:Journal of neurology
pub_type: 信件
doi:10.1007/s00415-009-5103-9
更新日期:2009-08-01 00:00:00
abstract::We recently reported findings that loss of cortical acetylcholinesterase (AChE) activity is greater in parkinsonian dementia than in Alzheimer's disease (AD). In this study we determined cognitive correlates of in vivo cortical AChE activity in patients with parkinsonian dementia (PDem, n = 11), Parkinson's disease wi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0971-0
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVES:Over the past few decades, there has been an improvement in the rate of disability progression in multiple sclerosis (MS) patients, and most studies relate this evolvement to the introduction of disease-modifying therapies. However, several other factors have changed over this period, including access to MRI...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10279-7
更新日期:2020-10-22 00:00:00
abstract::To further evaluate (1) transcranial sonography (TCS) for (pre)clinical diagnosis of Parkinson's disease (PD) and (2) to examine asymptomatic carriers of Parkin mutations we investigated substantia nigra (SN) hyperechogenicity in PD patients and unaffected subjects with and without Parkin mutations. The area (aSN) of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-0567-y
更新日期:2007-10-01 00:00:00
abstract:INTRODUCTION:Two population-based studies of neuromyelitis optica (NMO) in non-white populations provided prevalence rates of 0.32 and 3.1 per 100,000 population. OBJECTIVE:To estimate NMO prevalence in the multiethnic Cuban population by nation-wide case ascertainment. METHODS:The study was conducted from October 1,...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-0009-0
更新日期:2009-01-01 00:00:00
abstract::Disturbances of balance, gait and posture are a hallmark of parkinsonian syndromes. Recognition of these axial features can provide important and often early clues to the nature of the underlying disorder, and, therefore, help to disentangle Parkinson's disease from vascular parkinsonism and various forms of atypical ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-019-09382-1
更新日期:2020-11-01 00:00:00
abstract::Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown etiology that affects multiple organs. We report 6 cases of ECD with neurological involvement and neuroradiological abnormalities on brain MRI. A literature review revealed 60 other cases of ECD with neurological involvement. We t...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-006-0160-9
更新日期:2006-10-01 00:00:00
abstract::Parkinson's disease (PD) is a progressive neurological disorder characterized by motor symptoms as well as severe deficits in olfactory function and microstructural changes in olfactory brain regions. Because of the evidence of asymmetric neuropathological features in early-stage PD, we examined whether lateralized mi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8555-3
更新日期:2017-07-01 00:00:00
abstract::The United Nations High Commissioner for Refugees (UNHCR) recognizes 43.7 million forcibly displaced persons and asylum seekers due to conflict and persecution worldwide. Neurological disorders have rarely been described in displaced persons but likely pose a significant burden of disease. We describe the disease spec...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6248-x
更新日期:2012-04-01 00:00:00
abstract::The purpose of this study was to evaluate the contribution of posterior circulation to memory function by comparing memory scores between patients with and without a foetal-type posterior cerebral artery (FTP) during the intracarotid amobarbital procedure (IAP) in epilepsy patients. Patients undergoing bilateral IAP b...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6391-4
更新日期:2012-08-01 00:00:00
abstract::The prevalence of clinical and electrophysiological signs of peripheral nerve disease was evaluated in 151 patients with chronic obstructive pulmonary disease. Patients with concomitant disorders affecting the peripheral nervous system were excluded. Thirty patients had clinical signs of a mild sensorimotor and distal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314624
更新日期:1990-07-01 00:00:00
abstract::The diagnosis of neurosarcoidosis is often difficult; the imaging signs of spinal cord sarcoidosis sometimes mimic those of cervical spondylotic myelopathy, which is common in elderly persons. We examined the characteristics of spinal cord sarcoidosis in Japanese patients with neurosarcoidosis. This case series identi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6080-3
更新日期:2011-12-01 00:00:00
abstract::Intrathecal synthesis of immunoglobulin G (IgG) specific to Treponema pallidum, ssp. pallidum, or to the human immunodeficiency virus 1 (HIV-1) was investigated in patients with contemporary treponemal and HIV-1 infections. Using a T. pallidum and an HIV-1 IgG enzyme-linked immunosorbent assay, specific antibody units...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314359
更新日期:1988-03-01 00:00:00
abstract::We describe three patients with unilateral asterixis. One diabetic patient with a moderately-sized haematoma in the left putamen initially developed bilateral and symmetrical asterixis, which became confined to the right side as his diabetes mellitus was controlled. Two patients showed unilateral asterixis due to haem...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314766
更新日期:1990-12-01 00:00:00
abstract::Parvalbumin (a calcium-binding protein)-immunoreactive (PV-Ir) neurons in the cerebral cortex were examined in 20 postmortem brains obtained from elderly controls and patients with Pick's disease (PD). The type of PV-Ir neurons and their distribution in control and PD brains were similar. The number of PV-Ir neurons i...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314780
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVE:Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare, autoimmune-inflammatory disease of the peripheral nervous system. Recently, various immunoglobulin G4 (IgG4) type auto-antibodies have been described in patients with CIDP which can effectively be removed by immunoadsorption (IA). Therefore, ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9082-6
更新日期:2018-12-01 00:00:00
abstract::Post-concussion symptoms (PCS) (such as headaches, irritability, anxiety, dizziness, fatigue and impaired concentration) are frequently experienced by patients who have sustained a minor head injury (MHI). The post-concussion syndrome has been defined as a clinical state where 3 or more symptoms persist for more than ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150050254
更新日期:1998-09-01 00:00:00
abstract::Focal transcranial magnetic stimulation (TMS) of the motor cortex was used to study excitatory and inhibitory stimulation effects in 25 patients with writer's cramp and 25 healthy volunteers. We investigated excitatory and inhibitory corticospinally mediated motor effects in muscles contralateral to the stimulation si...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150170269
更新日期:2001-01-01 00:00:00
abstract::A 73-year-old woman presented with multifocal cerebral dysfunction of 1 month's duration. Cranial CT scanning revealed unusual widespread abnormalities. Brain biopsy showed amyloid angiopathy affecting vessels in the meninges and cerebral cortex, with associated granulomatous angiitis. There was no clinical evidence o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314491
更新日期:1988-09-01 00:00:00
abstract::Gastrointestinal dysfunction, especially constipation, is one of the major problems in the daily life of patients with Parkinson's disease (PD). About 60 to 80% of PD patients suffer from constipation. Several studies have proven that constipation appears about 10 to 20 years prior to motor symptoms. More recently, Ab...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-1706-3
更新日期:2004-10-01 00:00:00
abstract:BACKGROUND:Sleep disorders can occur in early Parkinson's disease (PD). However, the relationship between different sleep disturbances and their longitudinal evolution has not been fully explored. OBJECTIVE:To describe the frequency, coexistence, and longitudinal change in excessive daytime sleepiness (EDS), insomnia,...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10140-x
更新日期:2021-01-01 00:00:00
abstract::The fluctuation in daily performance of Parkinson patients on long-term L-dopa therapy is known as the so called "off-on" phenomenon. Cotzias et al. found that a low protein diet is able to control this phenomenon in patients taking L-dopa alone but not in those receiving a combination of L-dopa and decarboxylase inhi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312550
更新日期:1977-04-28 00:00:00
abstract::Bcl2-associated athanogene 3 (BAG3) gene mutations cause dilated cardiomyopathy and myofibrillar myopathy. Recently, a novel c.625C>T (p.Pro209Ser) mutation in BAG3 was reported to cause axonal Charcot-Marie-Tooth (CMT) disease in three families. Here, we describe two patients with adult-onset and moderate CMT in a Ch...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09680-8
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:Hyposmia can develop with age and in neurodegenerative conditions, including Parkinson's disease (PD). The University of Pennsylvania Smell Identification Test (UPSIT) is a 40-item smell test widely used for assessing hyposmia. However, in a number of situations, such as identifying hyposmic individuals in l...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09340-x
更新日期:2019-08-01 00:00:00
abstract::Local administration of botulinum toxin (BoTx) inhibits presynaptic acetylcholine release. All cholinergically innervated muscles and glands can be paralyzed accordingly. Studies on the application of BoTx in multiple sclerosis have shown good results for focal spasticity, in particular, of the extremities. The first ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-006-1104-0
更新日期:2006-02-01 00:00:00