Abstract：
:Whole genome screening is increasingly used to identify genetic risk factors for complex diseases. In this study, a genome wide linkage disequilibrium (LD) screen was performed in a cohort of Parkinson's disease (PD) patients from the UK (n = 195) using pooled DNA to facilitate efficient genotyping of 5546 microsatellite markers. Allele frequencies were compared with those found in 2 previously typed disease free control populations, and the most interesting markers were selected for multiple repeat testing among the 3 pools. Markers were then individually genotyped in our original PD cohort and one of the original control groups, and independently in a second cohort of UK PD patients (n = 179), and additional controls. Using this 2-stage approach, we have been unable to find evidence for consistent association of any markers with sporadic PD. Subgroup analysis of the most promising marker shows some evidence that microsatellite marker D1S2886 is associated with familial forms of the disease.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Foltynie T,Hicks A,Sawcer S,Jonasdottir A,Setakis E,Maranian M,Yeo T,Lewis S,Brayne C,Stefansson K,Compston A,Gulcher J,Barker RAdoi
10.1007/s00415-005-0686-2keywords:
subject
Has Abstractpub_date
2005-05-01 00:00:00pages
597-602issue
5eissn
0340-5354issn
1432-1459journal_volume
252pub_type
杂志文章abstract：:Spinocerebellar ataxia (SCA) type 7 is an autosomal dominant disorder characterized by neural loss, mainly in the cerebellum and regions of the brainstem and particularly the inferior olivary complex. This neurodegeneration disease is associated with expansion of unstable CAG repeats within the 5'-translated region of...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150070131
更新日期：2000-08-01 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：:Behçet's disease is a multisystem inflammatory disorder with unknown aetiology. It is a disease of young adults with a more severe course in males subjects. Its prevalence is high in the Mediterranean basin and Japan and has been linked with human leucocyte antigen B5 (HLA-B5) in those countries. According to the diag...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s004150050205
更新日期：1998-04-01 00:00:00
abstract：INTRODUCTION:PCT is used in the diagnosis of acute neurological syndromes, particularly stroke. We aimed to evaluate PCT abnormalities in patients with acute epileptic seizures or status epilepticus (SE). METHODS:We collected patients undergoing acute PCT for the suspicion of acute ischemic stroke (AIS), who received ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-018-9095-1
更新日期：2018-12-01 00:00:00
abstract：:Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreic...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-002-0902-2
更新日期：2002-11-01 00:00:00
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 neuropsychia...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00316572
更新日期：1977-03-21 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：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：:Stavudine (2',3'-didehydro-3'deoxythymidine) is a pyrimidine analogue that may be of great value in combination antiretroviral therapy (ART) for treating patients infected with human immunodeficiency virus type 1 (HIV-1). We assessed potential neurotoxic side effects by comparing peripheral nerve function in patients ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150050336
更新日期：1999-03-01 00:00:00
abstract：:The neuropsychiatric symptoms and behavioral disorders affecting Parkinson's disease (PD) patients are common and disabling. A PD-specific interview-based 12-item scale, the Scale for Evaluation of Neuropsychiatric Disorders in Parkinson's Disease (SEND-PD), has been developed to assess the severity of neuropsychiatri...
journal_title：Journal of neurology
pub_type： 杂志文章,多中心研究
doi：10.1007/s00415-012-6490-x
更新日期：2012-11-01 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：: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：:Surface antigens on peripheral blood lymphocytes from myasthenia gravis patients were investigated. The expression of DR+ and CD8+/DR+ T lymphocytes was increased and the expression of CD4+ T cells reduced. Neither thymectomy, clinical condition nor anti-acetylcholine receptor antibody titre correlated with any of the...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00863771
更新日期：1994-02-01 00:00:00
abstract：:From a family with essential familial myoclonus, 150 members in eight generations were studied. Twenty-five of them suffered from myoclonus of varying severity. The findings in routine examinations of blood, urine and cerebrospinal fluid, EEG and skull radiographs were normal. Therapeutic trials did not produce lastin...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313626
更新日期：1983-01-01 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：:Myotonic Dystrophy Type 1 (DM1) and 2 (DM2) present with distinct though overlapping clinical phenotypes. Comparative imaging data on skeletal muscle involvement are not at present available. We used the novel technique of whole body 3.0 Tesla (T) Magnetic Resonance Imaging (MRI) to further characterize musculoskeleta...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0111-5
更新日期：2006-06-01 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：:The INCOMIN study (INdependent COMparison of INterferons) lends further support to the growing body of evidence that both dose and frequency of interferon beta (IFNbeta) administration are important in the treatment of multiple sclerosis (MS). High-dose, high-frequency IFNbeta (IFNbeta-1b 250 microg eod sc and IFNbeta...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-005-2016-0
更新日期：2005-09-01 00:00:00
abstract：BACKGROUND:Dermic fibroblasts have been proposed as a potential genetic-ALS cellular model. This study aimed to explore whether dermic fibroblasts from patients with sporadic-ALS (sALS) recapitulate alterations typical of ALS motor neurons and exhibit abnormal DNA-damage response. METHODS:Dermic fibroblasts were obtai...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-09704-8
更新日期：2020-05-01 00:00:00
abstract：:A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A "myopathic" pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00312870
更新日期：1976-01-01 00:00:00
abstract：:Production of reactive oxygen species after cerebral blood flow disruption may enhance tissue damage through multiple molecular pathways. Changes in nitric oxide (NO) metabolism and oxidative stress status were investigated in 47 patients with ischemic stroke by measuring plasma nitric oxide (NO) and peroxynitrite (ON...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-007-0700-y
更新日期：2008-01-01 00:00:00
abstract：:The development of Guillain-Barré syndrome is reported in a patient, who had previously received botulinum toxin type A injections into both orbicularis oculi muscles to treat idiopathic blepharospasm. The possibility of a causal relationship is discussed with consideration of the literature on adverse effects of vacc...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00319673
更新日期：1990-02-01 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：:We examined the influence of alleles at the HLA loci, previously found to be associated with multiple sclerosis (MS) in Sardinia, on the clinical course of the disease in 835 relapsing (R) and 100 primary progressive (PP) patients. Multivariate analysis was carried out on predisposing 0301 or non-associated DPB1 allel...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0957-y
更新日期：2006-02-01 00:00:00
abstract：:Degeneration of central dopaminergic neurons is the most characteristic pathological feature of Parkinson's disease. It remains to be established to what extent these lesions explain the motor, cognitive and affective disorders observed in patients, but there are now some interesting clues to a possible solution. ...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/BF00819560
更新日期：1992-01-01 00:00:00
abstract：:To define the incidence and type of neurological complications and associated factors, we reviewed 41 consecutive patients who had 45 procedures for liver transplantation. Encephalopathy occurred after 28 procedures (62%) with immediate onset and no significant recovery before death or re-transplantation in 11 (24%), ...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s004150170023
更新日期：2001-12-01 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：:We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA-2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading frame and result in a premature stop of the CACNA1A protein, were ident...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-002-0860-8
更新日期：2002-11-01 00:00:00
abstract：:We investigated the efficacy of botulinum toxin A (BtxA) therapy in patients with atypical parkinsonian disorders (APD) exhibiting different types of disabling focal dystonia unresponsive to oral drug therapy. Eight patients with functionally disabling focal dystonia out of a series of 60 consecutive patients with APD...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s004150200009
更新日期：2002-03-01 00:00:00
abstract：:Exercise therapy (ET) can be beneficial in disabled multiple sclerosis (MS) patients. Intermittent transcranial magnetic theta burst stimulation (iTBS) induces long-term excitability changes of the cerebral cortex and may ameliorate spasticity in MS. We investigated whether the combination of iTBS and a program of ET ...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/s00415-011-5924-1
更新日期：2011-07-01 00:00:00
