Abstract:
BACKGROUND:The nonischemic forearm exercise test (NIFET) has been shown to be as effective as the classic ischemic forearm exercise test (IFET) in the diagnosis of patients with McArdle disease. Recently, the lactate increase normalized to the mechanical energy production in NIFET was suggested to have a intermediate sensitivity and satisfactory specifity for the screening of mitochondrial disorders. METHODS:NIFET at 80% maximal contraction force (MCF) was performed in normal controls (n = 41), patients with mitochondrial disorders (n = 15) and other myopathies (diseased controls, n = 20). 26 healthy volunteers also underwent IFET at 80% MCF. The ratio of lactate increase and workload was defined as specific lactate production (mmol x s/N x l). RESULTS:In normal controls there was no significant different lactate increase during NIFET and IFET. The workload performed showed only a weak significant positive correlation with the lactate increase in the NIFET in normal controls (r(2) = 0.20) but not in IFET and NIFET with patients. A moderate negative correlation of specific lactate production and the absolute workload was found in all groups and in both protocols (r(2) = 0.22-0.34). The specific lactate production was highest in patients with other myopathies, intermediate in patients with mitochondrial disorders and lowest in normal controls. NIFET showed a sensitivity of only 20 % and a specifity of 95% for normal controls, but only 75 % for diseased controls. CONCLUSION:The specific lactate production during NIFET is neither sufficiently specific nor sensitive for the diagnosis of mitochondrial disorders. Increased specific lactate production during rest-to-work transition period might be caused by increased acetyl group deficits.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Hanisch F,Eger K,Bork S,Lehnich H,Deschauer M,Zierz Sdoi
10.1007/s00415-006-0101-7subject
Has Abstractpub_date
2006-06-01 00:00:00pages
735-40issue
6eissn
0340-5354issn
1432-1459journal_volume
253pub_type
临床试验,杂志文章abstract::Nystagmus is a rhythmical rotation of the eyeball. Its characteristics can be defined mathematically by the axis of rotation and the angular velocity around this axis. We analysed the axis of rotation for the nystagmus in benign paroxysmal positional vertigo (BPPV) to elucidate its pathophysiology. Thirteen patients w...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0905-z
更新日期:2002-12-01 00:00:00
abstract:: ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09192-5
更新日期:2019-03-01 00:00:00
abstract:OBJECTIVE:To investigate whether intracranial arachnoid cysts (AC) compromise visual attention and if so, whether surgical cyst decompression leads to improvement in visual attention performance. METHODS:The experiments were carried out on 27 patients with temporal (n=21) or frontal (n=6) AC, and 27 healthy control su...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-006-0280-2
更新日期:2007-01-01 00:00:00
abstract::It has been approximately 50 years since neurologists were introduced to the entities, "progressive supranuclear palsy" and "corticobasal degeneration". Since the two seminal publications, there have been significant advancements in our understanding of these two neurodegenerative diseases, particularly the fact that ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-015-7682-y
更新日期:2015-03-01 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::We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affe...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314041
更新日期:1985-01-01 00:00:00
abstract::Early identification of cardiogenic vertigo (CV) is necessary to prevent serious complications of cardiovascular diseases. However, the literature is limited to case reports without detailed clinical features or diagnostic criteria. The aim of this study was to define characteristics of CV and propose diagnostic crite...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10252-4
更新日期:2020-10-06 00:00:00
abstract:OBJECTIVE:To characterize the progression of the cognitive involvement in patients affected by myotonic dystrophy type 1 (DM1) by a longitudinal neuropsychological follow-up study. METHODS:In a previous study we documented an ageing-related decline of frontal and temporal cognitive functions in juvenile/adult forms of...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0017-5
更新日期:2008-11-01 00:00:00
abstract::Neurological complications following rubella are only rarely encountered. However, in many cases severe neurological impairment may occur, leading to permanent disability. In a recent epidemic of rubella in Israel during the years 1978-1979, 20 patients with severe neurological complications have been seen. We report ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313402
更新日期:1982-01-01 00:00:00
abstract:BACKGROUND:Alzheimer's disease (AD) leads to a degeneration of the nucleus basalis of Meynert and thus to decreased cholinergic tonus in the brain. The transcription of endothelial nitric oxide synthase depends on an adequate cholinergic innervation of microvessels and vasoregulative abnormalities have been reported in...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-005-0926-5
更新日期:2006-01-01 00:00:00
abstract::In refractory temporal lobe epilepsy (TLE) temporal lobe structures and functions are continuously or intermittently affected by abnormal brain electrical events, noxious neurochemical agents, and metabolic disturbances. There is conflicting evidence regarding the relationship between the duration of refractory mesial...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050484
更新日期:1999-10-01 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 three main immunoglobulin classes obey the basic principles of passive protein transfer at the blood-CSF barrier and the serum-derived portions could therefore be quantified with the help of the permeability marker albumin. The Ig fractions secreted into the CSF by sessile plasma cell clones have been determined i...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313413
更新日期:1982-01-01 00:00:00
abstract::Apraxia of lid opening (ALO) is a non-paralytic inability to open the eyes or sustain lid elevation at will. The exact pathophysiological mechanisms underlying the syndrome are still unknown. ALO has been reported in patients with Parkinson's disease (PD) after subthalamic nucleus (STN) deep brain stimulation (DBS), s...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6447-0
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Cognitive impairment is a debilitating symptom experienced by ~ 50% of multiple sclerosis patients, with processing speed (PS) and memory most affected. Until now, the field has considered cognition in a binary fashion: patients are designated as impaired or not impaired. This designation is typically arrive...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8747-5
更新日期:2018-03-01 00:00:00
abstract::Untreated sleep disorders may contribute to secondary causes of uncontrolled hypertension, cardiovascular disease (CVD), and stroke. Restless legs syndrome, or Willis-Ekbom Disease (RLS/WED), is a common sensorimotor disorder with a circadian rhythmicity defined by an uncontrollable urge to move the legs that worsens ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-013-7065-1
更新日期:2014-06-01 00:00:00
abstract::We wanted to determine the neurocognitive profile of adult patients with moyamoya disease prior to neurosurgical intervention. The experience of three United States medical centers, Columbia University, University of Illinois at Chicago, and the University of Texas Southwestern Medical Center at Dallas, were combined....
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-009-5424-8
更新日期:2010-05-01 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::Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism. Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism. We analysed lactate, pyruvate, carnitine and acylcarnitine bloo...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0763-4
更新日期:2008-05-01 00:00:00
abstract:BACKGROUND:Gastrointestinal (GI) dysfunction is prevalent in Parkinson's disease (PD). Symptoms are evident throughout the disease course, affect the length of the GI tract and impact on patient quality of life and management. We clarify real-life differences in the frequency and severity of GI symptoms in a cohort of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09723-5
更新日期:2020-05-01 00:00:00
abstract::Multiple sclerosis (MS), a chronic inflammatory disorder of the central nervous system (CNS), 2 results in damage to axons and their surrounding myelin sheath. The exact cause of inflammation remains unclear, but an autoimmune response directed against CNS antigens is suspected. MS can affect the brain, optic nerve an...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-004-1504-y
更新日期:2004-09-01 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::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
abstract::Apoptotic deletion of autoreactive T-cells is defective in patients with multiple sclerosis (MS). Glatiramer acetate (GA) treatment seems to restore apoptosis of detrimental T-cells. We analyzed the mitochondria membrane pro- (Bax) and anti-apoptotic (Bcl- 2) and cytosolic pro-apoptotic (Cyt-c, APAF-1) proteins expres...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0965-y
更新日期:2006-02-01 00:00:00
abstract::Four patients with aphasia due to small circumscribed thalamic lesions are presented. A review of the literature on thalamic aphasia revealed 16 similar cases. While the general consensus that only left-sided thalmic lesions are associated with aphasia is confirmed, analysis of the sites of the thalamic infarctions an...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00314212
更新日期:1989-01-01 00:00:00
abstract::Neurological complications in the acquired immunodeficiency syndrome (AIDS) are an important aspect of this new infectious disease and occur frequently. The existence of neurotropic variants of the human immunodeficiency virus (HIV), the causative agent of AIDS, is probable. Direct infection of the nervous system with...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00314279
更新日期:1987-06-01 00:00:00
abstract:OBJECTIVE:A growing number of studies have been conducted on the relationship between anger and hostility and the risk of stroke, and their conclusions are not consistent. Accordingly, we performed a meta-analysis to evaluate the relationship between anger and hostility and the risk of stroke. METHODS:We searched the ...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00415-019-09231-1
更新日期:2019-04-01 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:OBJECTIVE:To explore the value of olfactory identification deficits as a predictor of cerebral β-amyloid status and other markers of brain health in cognitively normal adults aged ~ 70 years. METHODS:Cross-sectional observational cohort study. 389 largely healthy and cognitively normal older adults were recruited from...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10004-4
更新日期:2020-11-01 00:00:00
abstract::Alien limb syndrome following stroke within the territory of the posterior cerebral artery is exceedingly rare. A right-handed female experienced left homonymous hemianopia, visuospatial neglect, and proprioceptive loss of her left hemi-body. She experienced unintended, involuntary movements of her left arm and hand, ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09543-2
更新日期:2020-01-01 00:00:00