Abstract:
:Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Recent advances in genetics and pathophysiology have led to new insights into the pathogenesis of PD. Ten loci have been linked to hereditary PD. Mutations in alpha-synuclein and ubiquitin carboxy hydrolase L1 (UchL1) cause autosomal dominant PD and mutations in parkin and DJ-1 cause autosomal recessive PD. alpha-Synuclein has emerged as an important protein in the pathogenesis of PD, as it appears to be the major structural component of Lewy bodies and its accumulation/aggregation seems to play a prominent role in sporadic PD. Mutations in parkin are the most common cause of hereditary PD, and mutations in parkin are thought to lead to a loss of parkin's ubiquitin E3 ligase activity. Derangements in parkin function as well as mutations in UCH-L1 fit with the notion that derangements in the ubiquitin proteasomal pathway (UPP) may play important roles in the demise of dopamine neurons in PD. DJ-1 is a protein of unknown function that is linked to autosomal recessive PD. Oxidative stress and impairment in mitochondrial complex I activity are important in sporadic PD, and there is emerging interest in the role of herbicides, fungicides and insecticides that inhibit mitochondrial complex I activity and their role in contributing to the development of PD. These important findings serve as the foundation for discovering new pathways that may lead to the development of new therapies for PD.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Chung KK,Dawson VL,Dawson TMdoi
10.1007/s00415-003-1304-9keywords:
subject
Has Abstractpub_date
2003-10-01 00:00:00pages
III15-24eissn
0340-5354issn
1432-1459journal_volume
250 Suppl 3pub_type
杂志文章,评审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::This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7376-x
更新日期:2014-08-01 00:00:00
abstract::A patient is described who developed complex partial seizures with secondary generalization 3 years after a severe viral encephalitis with a CT and EEG identified lesion in the left insular cortex and its surrounding structures. When the seizures first occurred CT and MRI as well as repeated interictal conventional EE...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314461
更新日期:1989-07-01 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::The cause of idiopathic intracranial hypertension (IIH) remains unknown, and no consensus exists on how patients should be monitored and treated. Acetazolamide is a common treatment but has never been examined in a randomised controlled trial. The objectives of this pilot trial are to prospectively evaluate the use of...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-010-5861-4
更新日期:2011-05-01 00:00:00
abstract::Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main features are early onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. The presence of choreoathetosis or dystonia in some patients sug...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-0657-x
更新日期:2008-01-01 00:00:00
abstract::The occurrence of spontaneous internal carotid or vertebral artery dissection after childbirth remains rare. To our knowledge, seven cases of arterial dissection in the postpartum period have been described in the literature as single case reports. We report four additional cases of internal carotid and vertebral arte...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s004150050437
更新日期:1999-08-01 00:00:00
abstract::We investigated the visual event-related potentials (ERPs) in two subtypes of multisystem atrophy (MSA) in 15 MSA-C patients, 12 MSA-P patients, and 21 normal control (NC) subjects. We used a visual oddball task to elicit ERPs. No significant changes were seen in N1 or N2 latency, in either MSA-C or MSA-P, compared wi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0764-7
更新日期:2002-08-01 00:00:00
abstract::We studied the diagnostic value of computed tomographic angiography (CTA) in the posterior circulation as a noninvasive substitute for intra-arterial digital subtraction angiography (DSA). We prospectively investigated 103 patients with acute stroke in the posterior circulation. All patients underwent CTA and Doppler ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150070089
更新日期:2000-10-01 00:00:00
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::A method for the preparation of a potent and specific peroxidase-labelled antihuman IgG antibody is described. CSF cells from patients with various neurological diseases were stained. Only in cases of inflammatory diseases was IgG detectable. The stained cells were so-called lymphoid cells. As the demonstrable IgG can...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313346
更新日期:1980-01-01 00:00:00
abstract:OBJECTIVE:Amyotrophic lateral sclerosis type 8 (ALS8) is a familial form of motor neuron disease, with predominance of lower motor neuron degeneration, and is caused by mutation of the vesicle-associated membrane protein-associated protein B (VAPB). We aimed to compare the cognitive profile of patients with ALS8 and he...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09369-y
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:Determine toxicity and efficacy of autologous hematopoietic stem cell transplantation (HSCT) for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are dependent on intravenous immunoglobulins or plasmapheresis. METHODS:Unselected peripheral blood stem cells were re-infused on...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10010-6
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Nusinersen recently became available as the first treatment for Spinal Muscular Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce. METHODS:We evaluated the effectiveness and safety of nusinersen treatment during 14 months in 16 adult patients with SMA types 3 and ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10223-9
更新日期:2020-09-15 00:00:00
abstract:OBJECTIVES:Lumbar spondylosis (LS) is a common spinal degenerative disorder which causes various types of lower urinary tract dysfunction (LUTD). However, it is not certain whether LS may cause urinary retention in elderly women. METHODS:In a period covering the past 3 years, we retrospectively reviewed: a) urodynamic...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0790-3
更新日期:2005-08-01 00:00:00
abstract::Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the lesion looks like non- specific leukoencephalopathy, making a diagnosis at the early stage is very difficult. We ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7500-y
更新日期:2014-12-01 00:00:00
abstract::This observational study examined the outcome of two different therapeutic strategies in the treatment of chronic neuropathic pain by including pregabalin (PGB) as mono- or add-on therapy in one of two treatment options. Patients with a pain score of > or =4, refractory to usual care for neuropathic pain for at least ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5504-9
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVE:We aimed to assess the effectiveness of conservative treatments in children with tension-type headaches (TTH). METHOD:We searched Medline, Embase and the Cochrane Library and performed reference checking. Two independent authors assessed trial quality and extracted data. Analysis was carried out according to...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-005-0940-7
更新日期:2005-10-01 00:00:00
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::A man, aged 46, who had been taking Clioquinol in high doses for a long period, developed a characteristic neurological syndrome of subacute myelo-optic neuropathy rather abruptly. Electron microscopical examination of the muscle biopsy, obtained five months after the onset of the disease, revealed severe degenerative...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:
更新日期:1977-05-13 00:00:00
abstract::Fatigue is a common and frequently disabling symptom of multiple sclerosis (MS). The aim of this study was to develop the Fatigue index Kliniken Schmieder (FKS) for detecting motor fatigue in patients with MS using kinematic gait analysis. The FKS relies on the chaos theoretical term "attractor", which, if unchanged, ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7415-7
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:Therapy of autoimmune diseases of the central and peripheral nervous system with intravenous IgG immunoglobulin (IVIg) is well established. Since IVIg is produced from pooled human plasma, autoantibodies can be found in IVIg products and, accordingly, in patient sera after transfusion. The de novo evidence o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09614-4
更新日期:2020-03-01 00:00:00
abstract:INTRODUCTION:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting in vascular glycosphingolipid accumulation and increased stroke risk. MRI findings associated with FD include white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), suggesting the presence of cerebral small vessel disease....
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10209-7
更新日期:2020-10-19 00:00:00
abstract:BACKGROUND AND PURPOSE:The efficacy and safety of mechanical thrombectomy (MT) for M2 segment occlusion of middle cerebral artery in patients with acute ischemic stroke (AIS) was investigated. METHODS:We searched PubMed and EMBASE from inception to 16 April 2019 for relevant studies, calculated the pool relative risks...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-09710-w
更新日期:2020-01-22 00:00:00
abstract::Brains from 54 patients with organic dementia were examined systematically. As in previous investigations a predominance of Alzheimer type changes was observed. Seventeen patients showed Lewy bodies in the nucleus basalis, the substantia nigra and the locus coeruleus as well as other lesions of parkinsonian type. In 5...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313858
更新日期:1986-04-01 00:00:00
abstract:INTRODUCTION:The present study aimed to survey the prevalence of prodromal symptoms of Parkinson's disease (PD) in Japanese health checkup examinees, for identifying at-risk subjects. METHODS:We conducted a questionnaire survey of annual health checkup examinees without neurological symptoms using the following self-r...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09714-6
更新日期:2020-05-01 00:00:00
abstract::Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00319681
更新日期:1991-06-01 00:00:00
abstract:BACKGROUND:Late-onset Pompe disease (LOPD) is a rare, metabolic disease primarily affecting the musculoskeletal and respiratory systems. Forced vital capacity (FVC) is commonly used to measure pulmonary function; however, associations between FVC and other LOPD outcomes remain unclear. METHODS:A systematic literature ...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析
doi:10.1007/s00415-019-09401-1
更新日期:2019-09-01 00:00:00
abstract::The objective was to identify factors associated with decisions made by patients with amyotrophic lateral sclerosis (ALS) to accept or decline non-invasive ventilation (NIV) and/or gastrostomy in a prospective population-based study. Twenty-one people with ALS, recruited from the South-East ALS Register who made an in...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7665-z
更新日期:2015-01-01 00:00:00
abstract::Two patients are reported with a chronic progressive illness characterized by dementia, ataxia and spasticity. There were no myoclonic jerks and both had normal electroencephalograms (EEG). Pathological findings in three brain biopsies were those of viral meningoencephalitis with perivenous demyelination. Serological ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313048
更新日期:1979-09-01 00:00:00