Abstract:
:Migraine is a common debilitating neurological disease characterised by attacks of severe headache with or without preceding aura. Its aetiology remains elusive; however it is clear that an interplay of genetic and environmental components play an important role. Familial hemiplegic migraine (FHM) is a rare and severe variant of migraine with aura and follows an autosomal dominant pattern of inheritance. This disease is genetically heterogeneous,with three causative genes having been identified. This review uses insights garnered from FHM to try and shed light on possible migraine disease pathogenesis.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Ramagopalan SV,Ramscar NE,Cader MZdoi
10.1007/s00415-007-0641-5subject
Has Abstractpub_date
2007-12-01 00:00:00pages
1629-35issue
12eissn
0340-5354issn
1432-1459journal_volume
254pub_type
杂志文章,评审abstract::Two cases of Addison's disease associated with myasthenia gravis are reported. This association has been described only rarely in the literature. In the first case, there were marked immunological abnormalities. It is most likely that the origin of the adrenocortical insufficiency in the second case is tuberculous. Th...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313835
更新日期:1985-01-01 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::Infectious agents have been proposed as potential causes of Alzheimer's disease (AD). Recently, we documented a high prevalence of Helicobacter pylori (Hp) infection in patients with AD. We aim to access the effect of Hp eradication on the AD cognitive (MMSE: Mini Mental State Examination and CAMCOG: Cambridge Cogniti...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-009-5011-z
更新日期:2009-05-01 00:00:00
abstract::Neuromyelitis optica (NMO) is an uncommon, demyelinating disease that causes long-term disability in adults. Though much has recently been learned about its pathogenesis, there are still only a few studies regarding the epidemiology of NMO. The aim of the study was to describe the epidemiology of NMO among adults in t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6926-y
更新日期:2013-08-01 00:00:00
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::Applying microarray technology to identify new diagnostic and prognostic markers in peripheral blood cells (PBC) after therapeutic intervention opens great perspectives regarding patient subclassification. Three recombinant products of the pleiotropic agent interferon beta (rIFN-beta) are available for disease modifyi...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-008-6010-1
更新日期:2008-12-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a fatal disease, leaving the patient in a partially or completely deafferented state. In an explorative study, we investigated responses to visual socio-emotional stimuli in ALS patients. Pictures from the International Affective Picture System (IAPS) were verbally judged by 12 m...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0907-8
更新日期:2005-12-01 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::The follow-up of neurophysiological tests (brain-stem auditory evoked potentials; blink reflex; sensory, motor and visual evoked potentials) and CT was investigated in 21 patients with late-onset cerebellar ataxia (CA) or multiple system atrophy. The study included an initial investigation and a follow-up examination ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00857523
更新日期:1993-01-01 00:00:00
abstract::In recent years, it has been widely recognised that modern doctors are not receiving the training they need to provide appropriate and effective palliative care. Deficiencies in care have been reported in several formal studies and, anecdotally, in many professional and popular lay publications. Doctors themselves hav...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/pl00007722
更新日期:1997-10-01 00:00:00
abstract:OBJECTIVE:Gluten neuropathy (GN) is the term used to describe peripheral neuropathy that occurs in patients with gluten sensitivity (GS) or coeliac disease (CD) in the absence of other risk factors. We aimed to describe the neurophysiological progression rate of GN across time and look into the potential role of geneti...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10137-6
更新日期:2021-01-01 00:00:00
abstract::The geste antagoniste is a voluntary maneuver that temporarily reduces the severity of dystonic posture or movements. It is a classical feature of focal and particularly cervical dystonia. However, the precise historical aspects of geste antagoniste still remain obscure. The goals of this review were (1) to clarify th...
journal_title:Journal of neurology
pub_type: 历史文章,杂志文章
doi:10.1007/s00415-011-6380-7
更新日期:2012-08-01 00:00:00
abstract::A consecutive series of 327 patients (188 males, 139 females; mean age 68.4, SEM 1.33) were hospitalized within 12 h of the onset of their first-ever hemispheric infarct. Three groups of patients were identified: diabetics (n = 70), non-diabetic hyperglycaemics (n = 93) and normoglycaemics (n = 164). Case-fatality rat...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00812155
更新日期:1992-08-01 00:00:00
abstract::The association of pathology and neurological deficit with quality of life (QoL) in multiple sclerosis (MS) is not fully understood. In this study, magnetic resonance imaging (MRI) measures of pathology--T1 and T2 lesion volume and ratio; active T2 lesion number; global and regional brain volume and atrophy; magnetiza...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6151-5
更新日期:2012-02-01 00:00:00
abstract:OBJECTIVE:Widespread metabolic changes are seen in neurodegenerative disease and could be used as biomarkers for diagnosis and disease monitoring. They may also reveal disease mechanisms that could be a target for therapy. In this study we looked for blood-based biomarkers in syndromes associated with frontotemporal lo...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09824-1
更新日期:2020-08-01 00:00:00
abstract:BACKGROUND:Tumefactive demyelinating lesions of the central nervous system can be the initial presentation in various pathological entities [multiple sclerosis (the most common), Balo's concentric sclerosis, Schilder's disease and acute disseminated encephalomyelitis] with overlapping clinical presentation. The aim of ...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-018-8984-7
更新日期:2018-10-01 00:00:00
abstract::Familial amyloid polyneuropathy (FAP) is a progressive systemic autosomal dominant disease caused by pathogenic mutations in the transthyretin (TTR) gene. We studied clinical, electrophysiological, histopathological, and genetic characteristics in 15 (13 late-onset and two early-onset) patients belonging to 14 familie...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7124-7
更新日期:2013-12-01 00:00:00
abstract::Continuous intrathecal administration of baclofen with implanted programmable pump systems is recommended in the treatment of severe spasticity of cerebral origin. Prior to pump implantation, a baclofen bolus test (BBT) is used to assess the effectiveness of intrathecal baclofen using the modified Ashworth Scale (MAS)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0825-y
更新日期:2002-09-01 00:00:00
abstract:INTRODUCTION:Mal de Debarquement Syndrome (MdDS) is the rare condition of enduring rocking sensations and subjective unsteadiness following a lengthy exposure to passive motion. The pathogenesis of MdDS is unknown and the available treatment is limited. Here, we developed an experimental model of MdDS that may facilita...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09345-6
更新日期:2019-09-01 00:00:00
abstract::Three cases of Fahr's syndrome are described. All patients had disturbances of calcium metabolism and had had a meningoencephalitis in childhood. It is suggested that gliovascular changes, induced by cerebral inflammation, can later facilitate the occurrence of calcification of the striopallidodentate system when abno...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313985
更新日期:1986-02-01 00:00:00
abstract:BACKGROUND:Contactin-associated protein-like 2 (CASPR2) autoantibody disease has a variable clinical phenotype. We present a case report and performed a systematic review of the literature to summarize: (1) the clinical phenotype of patients with CASPR2 antibodies, (2) the findings in neurological investigations, and (...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09686-2
更新日期:2020-04-01 00:00:00
abstract::There is still a need to prove that even static magnetic fields up to 1.5 T used in magnetic resonance imaging (MRI) are biologically safe and harmless for humans. Recordings of median and ulnar nerves and brain-stem auditory evoked potentials in 20 patients were completed prior to and after MRI investigation of the c...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314248
更新日期:1988-11-01 00:00:00
abstract::The neurochemical abnormalities underlying vascular parkinsonism (VP) have not been well characterised. A better understanding may help to optimize pharmacological interventions. Since VP patients generally have a poorer response to l-Dopa than Parkinson's disease (PD) patients, we investigated whether levels of relev...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7126-5
更新日期:2013-12-01 00:00:00
abstract::Amyloid positron emission tomography ([18F] florbetaben (FBB) PET) can be used to determine concomitant Alzheimer's disease (AD) in idiopathic normal pressure hydrocephalus (iNPH) patients. FBB PET scans and the tap test were performed in 31 patients with clinically suspected iNPH, and amyloid positive (iNPH/FBB+) and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8650-5
更新日期:2018-01-01 00:00:00
abstract::We examined the morphology of spinal accessory motoneurons and immunoreactivity to neurotrophins, brain-derived neurotropic factor (BDNF) and neurotrophin (NT)-3, as well as the presence of reactive astrocytosis in 70 tiptoe walking Yoshimura (twy) mice that develop calcification at C1-C2 vertebral level compressing t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050287
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVE:To report the clinical features and long-term outcome of 22 newly diagnosed paraneoplastic patients with GABAB receptor antibodies (GABABR-Abs). METHODS:Retrospective clinical study of CSF-confirmed cases of GABABR-Abs encephalitis. RESULTS:We identified 22 patients (4 female) with GABABR-Abs, with a median...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9132-0
更新日期:2019-01-01 00:00:00
abstract::Carbon monoxide (CO) intoxication leads to acute and chronic neurological deficits, but little is known about the specific noxious mechanisms. (1)H magnetic resonance spectroscopy (MRS) may allow insight into the pathophysiology of CO poisoning by monitoring neurochemical disturbances, yet only limited information is ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5057-y
更新日期:2009-06-01 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::The number of dementia patients requesting euthanasia in the Netherlands has increased over the past five years. The issue is highly controversial. In this contribution we discuss some of the main arguments: the nature of suffering, the voluntariness of the request and the role of the physician. We argue that society ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8095-2
更新日期:2016-07-01 00:00:00
abstract::Myasthenia gravis (MG) is the archetypic disorder of both the neuromuscular junction and autoantibody-mediated disease. In most patients, IgG1-dominant antibodies to acetylcholine receptors cause fatigable weakness of skeletal muscles. In the rest, a variable proportion possesses antibodies to muscle-specific tyrosine...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-015-7963-5
更新日期:2016-04-01 00:00:00