Abstract:
:Diminished activity of uroporphyrinogen I-synthetase in the liver and other tissues may be regarded to be the primary genetic deficiency of acute intermittent porphyria (AIP). Increased production and renal excretion of delta-aminolevulinic acid (ALA) und porphobilinogen (PBG) are secondary phenomena. The neuropsychiatric symptomatology of AIP consists of neuropathy, vegetative crises and exogenous psychoses. In this study electromyographic and neurographic investigations were performed on 20 persons with AIP. 16 patients had experienced attacks of AIP, 10 of them including neuropathy. 4 persons showed the biochemical findings of AIP but had not yet had symptoms. In cases with persistent pareses following porphyric neuropathy denervation signs or sequelae were still present. In patients without clinical symptoms and in latent cases there were normal or borderline findings. Motor nerve conduction velocity was mostly decreased in combination with denervation signs and in a range that indicated a primarily axonal nerve lesion and consequent myelin damage rather than primary demyelinization. The mean motor conduction velocity of n. tibialis was somewhat lower in patients with porphyric crises without neuropathy than in latent cases without any clinical crises. The differences were not significant in other nerves. The findings are discussed under consideration of the electrodiagnostic results of other investigations and of neuropathological and clinical data.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Flügel KA,Druschky KFdoi
10.1007/BF00316572subject
Has Abstractpub_date
1977-03-21 00:00:00pages
267-79issue
4eissn
0340-5354issn
1432-1459journal_volume
214pub_type
杂志文章abstract::Neuromyelitis optica (NMO) is an inflammatory/demyelinating disorder predominantly affecting the optic nerves and spinal cord. Recent findings showed an underlying humoral abnormality in NMO, characterized by a serum antibody against aquaporin-4 (Aqp-4-Ab). In this study, we evaluated the Aqp-4-Ab status among Turkish...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5780-4
更新日期:2011-03-01 00:00:00
abstract::The neutrotrophins stimulate survival and differentiation of a range of target neurons. A wealth of evidence suggests that central cholinergic neurons depend on nerve growth factor (NGF) for trophic support. Grafts of NGF-producing cells rescue axotomized basal forebrain cholinergic neurons and reduce cholinergic cell...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00939231
更新日期:1994-12-01 00:00:00
abstract:BACKGROUND:Despite advances in the field, diagnosis and management of the wide spectrum of neurological events post allogeneic hematopoietic cell transplantation (alloHCT) remain challenging. Therefore, we investigated their incidence, diagnosis, management and long-term prognosis in alloHCT recipients. METHODS:We ret...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09372-3
更新日期:2019-08-01 00:00:00
abstract::We investigated the effect of chronic mechanical compression of the cervical spinal cord on the number of spinal accessory motoneurons in 25 tiptoe-walking Yoshimura mice. The animals had calcified deposits in the atlantoaxial membrane at the C1-C2 vertebral level, compressing the spinal cord posterolaterally. Motoneu...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050076
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Rehabilitation seems to promote brain plasticity, but objective measures of efficacy are lacking and there is a limited understanding of the mechanisms underlying functional recovery. OBJECTIVE:To study functional and structural brain changes induced by gait rehabilitation. METHODS:We enrolled MS inpatient...
journal_title:Journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00415-018-8859-y
更新日期:2018-06-01 00:00:00
abstract::In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor symptoms providing an up-to-date overview of the current understanding in this fast-growing field. First, we highlight the non-motor features at dise...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09881-6
更新日期:2020-09-01 00:00:00
abstract::Activation studies with positron emission tomography (PET) and functional magnetic resonance imaging (fMRI) represent a powerful tool to study the functional anatomy of Parkinson's disease (PD). Activation studies offer the opportunity to study regional cerebral function in man in vivo under different conditions with ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-003-1103-1
更新日期:2003-02-01 00:00:00
abstract::A case of primary autonomic failure (AF) with uncomplicated Parkinson's disease is presented with clinical and neurophysiological data. Special emphasis is placed on new methods of examining impairment of unmyelinated sympathetic and afferent C-fibres. Sympathetic vasoconstrictor responses in the skin induced by deep ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00869769
更新日期:1993-12-01 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::We performed the first population-based case-control study on clinical risk factors and drug exposure in Guillain-Barré syndrome (GBS). Sixty patients with GBS were collected through an incidence survey performed in the Emilia-Romagna region of northern Italy. GBS patients were compared with 109 hospital controls (HC)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050504
更新日期:1999-11-01 00:00:00
abstract::Both neurologists and urologists might encounter patients with acute urinary retention due to benign inflammatory nervous diseases. Based on the mechanism of urinary retention, these disorders can be divided into two subgroups: disorders of the peripheral nervous system (e.g., sacral herpes) or the central nervous sys...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0189-9
更新日期:2006-08-01 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::This study aims to explore the clinical features, radiological findings, management and the factors influencing prognosis in PCR-confirmed herpes simplex virus encephalitis (HSE). This is a retrospective review of consecutive patients diagnosed with HSE at Mayo Clinic, Rochester, MN, between January 1995 and December ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7960-8
更新日期:2016-02-01 00:00:00
abstract::We conducted an open-labeled clinical trial of interferon beta-1b (IFNB) treatment in 20 patients with primary progressive multiple sclerosis (PPMS) and longitudinally monitored autoantibodies against double-stranded DNA (dsDNA), thyroid peroxidase (TPO),myelin basic protein (MBP), myelin oligodendrocyte glycoprotein ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-004-0580-3
更新日期:2004-12-01 00:00:00
abstract:BACKGROUND:Classifying and diagnosing peripheral vestibular disorders based on their symptoms is challenging due to possible symptom overlap or atypical clinical presentation. To improve the diagnostic trajectory, gadolinium-based contrast-enhanced magnetic resonance imaging of the inner ear is nowadays frequently used...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-10278-8
更新日期:2020-12-01 00:00:00
abstract::Cobrotoxin-binding protein was isolated by affinity chromatography from human thymoma which had been surgically removed from patients with myasthenia gravis. The protein was composed of polypeptides with a molecular mass of 40, 51, 65, and 74 kilodaltons as determined by polyacrylamide gel electrophoresis in the prese...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00618251
更新日期:1987-05-01 00:00:00
abstract::We report three members of a single family with an apparently autosomal dominant, nonparoxysmal, hyperkinetic movement disorder with onset in adolescence. The proband, a 56-year-old woman, manifested dystonia, tremor and myoclonus; one of her daughters exhibited myoclonus with tremor, and the other demonstrated myoclo...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050116
更新日期:1997-07-01 00:00:00
abstract::To determine the epidemiological, clinical, and genetic characteristics of congenital hypomyelinating leukodystrophies, including Pelizaeus-Merzbacher disease (PMD), we conducted a nationwide epidemiological survey in Japan. A two-step survey targeting all medical institutions specializing in pediatric neurology and c...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7263-5
更新日期:2014-04-01 00:00:00
abstract::Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s004150170241
更新日期:2001-02-01 00:00:00
abstract::Four cases of mild botulinus type B intoxication are reported with the clinical neurophysiological studies. Electromyographically tetanic stimulation of the N. ulnaris initially led to tetanic potentiation of the muscle action potential. After an interval without any symptoms tetanic reduction became apparent between ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312957
更新日期:1978-02-14 00:00:00
abstract::To analyze the in vivo biological effect of anti-interferon beta (IFN-beta) neutralizing antibodies (NABs), blood concentrations of neopterin, beta2microglobulin (Beta2-MG), mRNA-dependent myxovirusresistant protein A (MxA) and dsRNA-dependent protein kinase (PKR) were measured before (predose) and 24 hours after (pos...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-006-0332-7
更新日期:2007-05-01 00:00:00
abstract::Isolated floccular infarction is extremely rare, and impairments of the vestibulo-ocular reflex (VOR) have not been explored in humans with isolated floccular lesions. The purpose of this study was to examine and report selective impairment of VOR in response to high acceleration using head impulse in a patient with i...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6837-y
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:An upper motor neuron (UMN) lesion in amyotrophic lateral sclerosis (ALS) is often difficult to identify because clinical signs may be discrete or masked by severe simultaneous LMN lesions. We compared the diagnostic sensitivity of transcranial magnetic stimulation (TMS) to cranial muscles and limb muscles i...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150170068
更新日期:2001-10-01 00:00:00
abstract::The APOE*4 allele of the apolipoprotein E gene increases the risk of Alzheimer's disease (AD), but whether it also affects the course of the disease is controversial. However, all studies on this issue until now have been based on patients at various stages of disease. In the present population-based study, 97 patient...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050351
更新日期:1999-04-01 00:00:00
abstract::During the last few years, deep brain stimulation (DBS) of the subthalamic nucleus (STN) has emerged as a promising therapy, alleviating major motor symptoms of Parkinson's disease (PD). However, in times of growing budgetary limitations, medical decisions are no longer merely based on clinical efficacy, but also on c...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0640-3
更新日期:2005-02-01 00:00:00
abstract::Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten te...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-010-5880-1
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Stratification of patients with transient ischemic attack (TIA) or ischemic stroke (IS) by risk of recurrent stroke can contribute to optimized secondary prevention. We therefore aimed to assess cardiovascular risk factor profiles of consecutive patients hospitalized with TIA/IS to stratify the r...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-0590-z
更新日期:2007-11-01 00:00:00
abstract::We should like to emphasize the following points: 1. Apathy is defined here as a quantified and observable behavioral syndrome consisting in a quantitative reduction of voluntary (or goal-directed) behaviors; 2. Therefore, apathy occurs when the systems that generate and control voluntary actions are altered; 3. These...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-006-7012-5
更新日期:2006-12-01 00:00:00
abstract::In vivo nuclear magnetic resonance spectroscopy (MRS) of the human brain is a recently developed technique which allows to assay noninvasively in vivo key molecules of brain metabolism. After a review of the origin of the signals detected by phosphorus and proton MRS of human brain, the impact of MRS on clinical neuro...
journal_title:Journal of neurology
pub_type: 社论,评审
doi:10.1007/BF02033352
更新日期:1994-05-01 00:00:00
abstract::Magnetisation transfer (MT) imaging provides indirect information on tissue structure abnormalities in areas that otherwise may appear normal on conventional MRI. We determined the evolution of MT changes in normal appearing white matter (NAWM) and lesion on serial examination of 9 multiple sclerosis (MS) patients and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-003-1115-z
更新日期:2003-08-01 00:00:00