Abstract:
:The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD. We analysed the COL3A1 gene in patients with spontaneous cervical artery dissection (sCAD) and in healthy controls, using three different genetic methods. 1) The promoter region, the 5' and 3' untranscribed regions and the N- and C- peptide encoding regions were studied by direct sequencing analysis of DNA from 12 patients. 2) A possible association of sCAD and the COL3A1 gene was tested for with 5 different DNA polymorphisms in 45 patients and 50 healthy control subjects. 3) DNA samples from a father and his two daughters, all suffering from spontaneous dissections of a cervical artery, were analysed with CA-repeat markers that flank the COL3A1 locus. No disease-causing mutations were found in an extended sequence analysis of the COL3A1 gene in patients with sCAD. However, we identified a single nucleotid polymorphism (SNP) in the promotor region in 2 patients and a 2 bp deletion in the 3' UTR in 7 patients. These sequence variants were also found among 50 healthy subjects. An analysis of multiple DNA polymorphisms of the COL3A1 locus in patients and healthy control persons did not indicate a significant association of sCAD with COL3A1. A deletion polymorphism in the 3' UTR was, however, found more often amongst patients with sCAD. The possible linkage of a hypothetical disease mutation with the COL3A1 locus was tested in a small family with three affected patients. As the affected daughters did not inherit the same COL3A1 allele from their affected father (LOD < - 2.3) COL3A1 was excluded as a disease gene in this family. This study confirms and extends earlier work which suggests that COL3A1 mutations are not a major cause for isolated sCAD.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
von Pein F,Välkkilä M,Schwarz R,Morcher M,Klima B,Grau A,Ala-Kokko L,Hausser I,Brandt T,Grond-Ginsbach Cdoi
10.1007/s00415-002-0745-xkeywords:
subject
Has Abstractpub_date
2002-07-01 00:00:00pages
862-6issue
7eissn
0340-5354issn
1432-1459journal_volume
249pub_type
杂志文章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::The pharmacokinetics of free and total valproic acid (VPA) in plasma and whole blood after oral administration during steady state was investigated in seven infants (mean age 10.7 months) receiving monotherapy. The VPA concentrations in whole blood closely followed those in plasma but at a reduced level. A positive co...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00315328
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abstract::Forty-four patients (mean age 66, SD 8 years) with either clinical evidence of a focal lacunar syndrome (n = 36) or with disorders of memory or gait (n = 8) in the presence of a lacunar infarct on CT were studied for cognitive functioning and for the presence of white matter lesions on MRI. MR images were assessed by ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF02444014
更新日期:1996-02-01 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
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abstract::The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impair...
journal_title:Journal of neurology
pub_type: 杂志文章
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更新日期:1984-01-01 00:00:00
abstract:BACKGROUND:Late-onset Pompe disease (LOPD) is an often misdiagnosed inherited myopathy for which treatment exists. We noticed a bright tongue sign on brain MRIs of two patients who were admitted to the ICU for respiratory failure of unclear origin, and who were eventually diagnosed with LOPD. This led us to systematica...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09455-1
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no evidence that complications or mortality rates in neuromuscular patients are higher than in the general population. The aim o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10339-y
更新日期:2021-01-02 00:00:00
abstract::Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a rare, autosomal recessive disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. The disease is characterized by progressive spastic ataxia and magnetic resonance imaging (MRI) sh...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6176-9
更新日期:2012-02-01 00:00:00
abstract::An IgM antibody cytotoxic to normal human lymphocytes was found in 46.2% (male: 61.5%; female: 30.8%) of sera from chronic schizophrenics by means of a complement-dependent cytotoxicity test. The relationship between this antibody and the immunological manifestations of schizophrenia is discussed. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314296
更新日期:1987-06-01 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::Uric acid (UA) is reduced in multiple sclerosis (MS), and possibly relates to MS outcomes, with lower UA levels in subjects experiencing a relapse or presenting higher disability scores. The present retrospective longitudinal study evaluated UA variations in MS, in relation to clinical relapses, disability progression...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7666-y
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:Anti-myelin oligodendrocyte glycoprotein antibodies (anti-MOG), directed against a component of the myelin sheath, are sometimes detected in the blood or cerebrospinal fluid (CSF) of patients with acute demyelinating conditions. Cortical encephalitic presentations in anti-MOG-antibody-positive patients are reco...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10260-4
更新日期:2020-10-14 00:00:00
abstract::The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Wester...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8413-3
更新日期:2017-04-01 00:00:00
abstract::The clinicopathological findings of a 50-year-old man, who developed cervicothoracic syringomyelia at the age of 25 are presented. He was given radiation therapy at the age of 33. At the age of 57 he developed a foramen jugulare syndrome on the left, caused by a low grade leiomyosarcoma. Etiologically, the most attrac...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313150
更新日期:1980-01-01 00:00:00
abstract::The use of a dopamine agonist with a long duration of action has theoretical advantages in attempting to reduce the motor fluctuations in Parkinson's disease. We report the results of a double-blind controlled study of adding cabergoline, an ergot derivative with potent long-lasting high affinity for the D2 receptor, ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF00878534
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND:Multiple sclerosis (MS) is an autoimmune, demyelinating disease of the central nervous system. The treatment of MS has always been a focus of neurological research. To date, the US Food and Drug Administration has approved 15 medications for modifying the course of multiple sclerosis. In this study, we exami...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-019-09395-w
更新日期:2020-12-01 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::Inborn errors of metabolism in 40 children have been investigated by computed tomography to obtain data on the degree of cerebral involvement in neurodegenerative and storage disorders: 20 children had various mucopolysaccharidoses, 8 sphingolipidoses , 3 mucolipidoses, 2 oligosaccharidoses , 3 ceroidlipofuscinoses an...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313718
更新日期:1984-01-01 00:00:00
abstract::Suicide is a leading cause of death in Huntington's disease (HD), following pneumonia. Up to one-fifth of individuals with HD report suicidal ideation. Identifying the risk factors of suicidal ideation in this clinical population is thus pivotal. Here, we review the literature on prevalence rates and risk factors of s...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-018-9013-6
更新日期:2018-11-01 00:00:00
abstract::Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset...
journal_title:Journal of neurology
pub_type: 杂志文章
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更新日期:2002-05-01 00:00:00
abstract::Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the diagnostic work-up including conventional genetic testing using Sanger sequencing remains complex and often unsatisfactory. We performed targeted sequencing of 23 LGMD-related genes and 15 genes in which alterations result in a similar phen...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8036-0
更新日期:2016-04-01 00:00:00
abstract::Toxoplasma encephalitis, cryptococcal meningitis, progressive multifocal leukoencephalopathy (PML), and cytomegalovirus (CMV) encephalitis are the most common opportunistic infections of the central nervous system (CNS) in HIV-infected patients. They occur at variable degrees of immunosuppression, and their diagnosis ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s004150050341
更新日期:1999-04-01 00:00:00
abstract::There has been a resurgence in the use of functional neurosurgery for Parkinson's disease. An important factor that has played a role in this development is the recent understanding of the functional anatomy of the basal ganglia including a knowledge of the changes in the activities of neurons in the internal segment ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF03161079
更新日期:1999-09-01 00:00:00
abstract::Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of the most common C...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5401-2
更新日期:2010-05-01 00:00:00
abstract::Levodopa treatment does improve Parkinson's disease (PD) dysgraphia, but previous research is not in agreement about which aspects are most responsive. This study investigated the effect of levodopa on the kinematics of writing. Twenty-four patients with PD of less than 10 years duration and 25 age-matched controls we...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09268-2
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Propranolol is recommended as first-line treatment for preventing migraine attacks; acupuncture has not been compared with propranolol in a head-to-head trial. OBJECTIVE:To compare acupuncture with propranolol using indirect treatment comparison meta-analysis. METHOD:We searched MEDLINE, EMBASE, and Cochra...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析
doi:10.1007/s00415-019-09510-x
更新日期:2020-01-01 00:00:00
abstract::The effect of local cooling was studied in 28 patients with myastenia gravis. We stimulated the ulnar nerve with single stimuli and trains at 3/s for 2s and at 50/s for 1.5 s. The compound muscle action potential (MAP), the muscle twitch and the isometric tetanic force of the adductor pollicis were registered. 1. At 3...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314051
更新日期:1977-11-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00920572
更新日期:1994-12-01 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::Psychiatric complaints are common in Parkinson's disease (PD), and have a significant influence in disease outcome and quality of life. Little attention has been paid to psychiatric symptoms at early stage disease. We aimed to screen a population of early stage PD patients for psychiatric symptoms and to study the rel...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6140-8
更新日期:2012-01-01 00:00:00