Abstract:
:We have studied the relationship between the apolipoprotein E gene (APOE) and the development of myoclonus, tremors, rigidity and seizures in 168 patients with probable early-onset Alzheimer's disease (AD). There was a statistically significantly lower risk of tremor for carriers of the epsilon 4 allele of APOE. This allele was also associated with an increased risk of myoclonus. Our findings suggest that there may be differences in progression and clinical appearance in early-onset AD related to the APOE genotype.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Bronzova J,van Duijn CM,Havekes LM,de Knijff P,Van Broeckhoven C,Hofman Adoi
10.1007/BF00900501subject
Has Abstractpub_date
1996-06-01 00:00:00pages
465-8issue
6eissn
0340-5354issn
1432-1459journal_volume
243pub_type
杂志文章abstract::A complex neurological syndrome, which rapidly appeared in a 54-year-old woman, created strong diagnostic difficulties. In fact, while the carotid-angiography was negative and CSF not significant, the scintigraphy suggested a multifocal metastatic or infarctual pathology. The CT scan easily allowed us to resolve the d...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313384
更新日期:1981-01-01 00:00:00
abstract::Parkinson's disease (PD) is a neurodegenerative disease caused by both genetic and environmental factors. Sirtuins are highly-conserved, NAD-dependent class III deacetylases that regulate a variety of cellular functions. Most of the known sirtuins have been involved in animal models of neurodegenerative disorders, suc...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6970-7
更新日期:2013-09-01 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::Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and k...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5708-z
更新日期:2011-02-01 00:00:00
abstract::Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems. A few cases of CDG-Ia have...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-0546-3
更新日期:2007-10-01 00:00:00
abstract::Cerebral amyloid angiopathy (CAA) was found in 57% of 123 autopsy brains removed from patients aged 59-101 years. The incidence of CAA increased with age. CAA was seen most frequently in the occipital cortex. Immunohistochemically, amyloid of CAA was positive for amyloid P component and negative for human AA protein a...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314080
更新日期:1987-08-01 00:00:00
abstract:OBJECTIVE:To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients. METHODS:We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and a...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9037-y
更新日期:2018-11-01 00:00:00
abstract::Aquaporin-4 antibody (AQP4-Ab)-positive neuromyelitis optica spectrum disorder (NMOSD) is a rare but often severe autoimmune disease with median onset around 40 years of age. We report characteristics of three very-late-onset NMOSD (including complete NMO) patients >75 years of age, in whom this diagnosis initially se...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7766-8
更新日期:2015-05-01 00:00:00
abstract::There is still uncertainty regarding risk factors for cancer occurrence in patients with myasthenia gravis (MG). The objective of this study is to determine the prevalence of extrathymic neoplasms in patients with MG and the factors associated with tumor occurrence. The archives of four tertiary MG centers were consul...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5091-9
更新日期:2009-08-01 00:00:00
abstract::Two right-handed patients who exhibited language disability after left frontal infarction are described. The patients spoke fluently and exhibited excellent repetition ability from the onset of infarction without exhibiting any oral apraxia, but had deficits in auditory comprehension, naming, reading and writing. In b...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050180
更新日期:1998-02-01 00:00:00
abstract::The safety and efficacy of intravenous thrombolysis (IVT) in dissection-related ischemic stroke (DRIS) has not been established. We sought to determine safety and recovery rates of IVT in DRIS using prospective, international, multicenter data and by conducting a comprehensive meta-analysis of reported case series. We...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,多中心研究
doi:10.1007/s00415-015-7829-x
更新日期:2015-09-01 00:00:00
abstract:BACKGROUND:Multiple sclerosis (MS) notably affects adults of working age. For persons with MS (PwMS), being employed enhances their quality of life and it may be regarded as an indicator of overall functioning. Thus, ensuring work participation in PwMS is of general public health interest. OBJECTIVE:To examine relevan...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09973-3
更新日期:2020-10-01 00:00:00
abstract::The problem of consciousness is discussed briefly, including the contrary views of consciousness as a transcendental phenomenon and as an animistic fiction. Measurement of consciousness is possible only indirectly by means of quantitative assessment of accompanying behavioral deficits. Knowledge of the structural basi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313364
更新日期:1978-09-12 00:00:00
abstract::Oculomotor dysfunction in Parkinson's disease (PD) is mainly characterized by a fragmentation of memory-guided gaze shifts (target is reached by several hypometric saccades). Since this phenomenon can also be observed in normal subjects, we scrutinized its pathophysiological significance in PD patients. We recorded ho...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0691-7
更新日期:2002-06-01 00:00:00
abstract:BACKGROUND:Thymoma is frequently associated with paraneoplastic diseases (PDs), most commonly with myasthenia gravis (MG). This association is thought to depend on thymoma's capacity to produce and export T lymphocytes. OBJECTIVE:(1) To determine the frequency and characteristics of thymoma-associated PDs other than M...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0429-z
更新日期:2007-06-01 00:00:00
abstract::To clarify the changes of cervical (cVEMP) and ocular (oVEMP) vestibular evoked myogenic potentials induced by air-conducted sound (ACS) and bone-conducted vibration (BCV) in patients with vestibular neuritis (VN), patients with VN (n = 30) and normal controls (n = 45) underwent recording of cVEMP and oVEMP in respons...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6953-8
更新日期:2013-08-01 00:00:00
abstract::Six patients with amyotrophic lateral sclerosis were given from 800 to 4000 micrograms of thyrotropin-releasing hormone (TRH) intrathecally for a period of 2-6 months. The progressive course of this disease, manifested by increasing atrophy, paralysis and disability score, was not altered. This supports the hypothesis...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314033
更新日期:1985-01-01 00:00:00
abstract::Currently, several disease-modifying therapies for the treatment of multiple sclerosis are established and more are likely to be introduced. These treatment options differ with respect to their application profile, mechanism of action, efficacy, safety, and tolerance. Here, we review current concepts of MS therapies, ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6101-2
更新日期:2011-10-01 00:00:00
abstract::Differentiation of herpes simplex virus (HSV) types 1 and 2 in cerebrospinal fluid of 17 patients with serologically diagnosed HSV encephalitis and meningitis or acute limbic encephalitis was determined by stringent hybridization of polymerase chain reaction--amplified DNAs. Ten of 17 patients were positive; six with ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00873514
更新日期:1994-08-01 00:00:00
abstract:OBJECTIVE:To assess metabolite levels in normal-appearing white matter in sporadic and familial multiple sclerosis (MS). METHODS:Using H-MRS and applying one voxel measure we assessed NAA/Cho, NAA/Cr and Cho/Cr ratios in 26 patients with sporadic and in 25 with familial MS and compared them with healthy subjects. RES...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0754-7
更新日期:2005-07-01 00:00:00
abstract::Evoked urethral and anal responses are produced by electrical stimulation of penis, bladder neck and anus. Latency and duration of the responses after bladder neck and anal stimulation are greatly dependent on stimulus parameters, suggesting a polysynaptic reflex; penile stimulation probably involves an oligosynaptic ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313567
更新日期:1982-01-01 00:00:00
abstract::Levodopa therapy is essential for patients in the advanced stages of Parkinson's disease. However, at early stages, DA agonist therapy has similar efficacy in the treatment of parkinsonism and a lower incidence of motor complications compared to levodopa therapy several years after the initiation of the therapy. The m...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-002-1205-3
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVES:Resistance to activated protein C (APC) is the most frequent cause of thrombophilia and a well known risk factor for deep and cerebral vein thrombosis. Its causative role in ischaemic stroke is still a matter of debate. We undertook this study to determine the prevalence of APC-resistance in a cohort of cons...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150170117
更新日期:2001-08-01 00:00:00
abstract:PURPOSE:The role of thalamus and brainstem in generalized epilepsy has been suggested in previous studies. The aim of the present study was to assess regional cerebral blood flow (rCBF) abnormality in juvenile myoclonic epilepsy (JME) patients. METHODS:(99m)Tc-ethylcysteinate dimer brain single photon emission compute...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0491-6
更新日期:2007-08-01 00:00:00
abstract::We have investigated how the abnormal head posture and motility in spasmodic torticollis interferes with ecological movements such as combined eye-to-foot whole-body reorientations to visual targets. Eight mildly affected patients and 10 controls voluntarily rotated eyes and body in response to illuminated targets of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6937-8
更新日期:2013-08-01 00:00:00
abstract::Five patients are described who developed unilateral narrowing of the palpebral fissure that was aggravated by smiling. They had ischaemic lesions involving mainly the contralateral lenticulocapsular area. This rare but distinct symptom may be an action induced focal eyelid dystonia, and could be described as'smile-wi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150170179
更新日期:2001-05-01 00:00:00
abstract::Multiple system atrophy and progressive supranuclear palsy are disabling neurodegenerative disorders, also known as atypical parkinsonian syndromes. Currently, no health economic evaluations of these diseases are available. The objective of this study was to evaluate disease-related costs in German patients with multi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6028-7
更新日期:2011-10-01 00:00:00
abstract:INTRODUCTION:The spinocerebellar ataxias (SCAs), are rare neurodegenerative disorders caused by distinct genetic mutations. Clinically, the SCAs are characterised by progressive ataxia and a variety of other features, including cognitive dysfunction. The latter is consistent with a growing body of evidence supporting a...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0680-6
更新日期:2008-03-01 00:00:00
abstract::The symptomatology of 18 patients with the severest clinical course after subarachnoid hemorrhage (SAH) is described and analyzed. Seventeen patients died, five with an acute bulbar syndrome with cardiac arrest, and 12 with irreversible breakdown of brain function. One patient had an apallic syndrome with minimal sign...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313005
更新日期:1979-01-01 00:00:00
abstract::In idiopathic rapid eye movement sleep behaviour disorder (RBD), an association with visuoperceptive disorders has been described. However, such an association has not been clearly established in RBD secondary to Parkinson's disease (PD). We compared visuoperceptive function in four groups of non-demented patients (pa...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5328-7
更新日期:2010-03-01 00:00:00