Abstract:
OBJECTIVES:Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the common features of neurodegeneration in multiple sclerosis (MS), FTD and ALS, sequence variants of the DCTN1 gene may be a contributory factor to neurodegeneration in MS. METHODS:We investigated a total of 200 MS patients and 200 controls. A total of 100 patients had a relapsing-remitting form of MS, 100 cases were primary progressive. Sequence alterations were screened for in the coding region of DCTN1 using heteroduplex and sequence analyses. RESULTS:Two heterozygous missense mutations (T1249I, I196V) were found in two healthy control subjects. No mutations were identified in 200 MS patients. The frequency of a known single nucleotide polymorphism (R495Q) was not significantly different between patients and controls. CONCLUSION:The results indicate that the DCTN1 gene is probably not influencing susceptibility to neurodegeneration in MS.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Münch C,Meyer R,Linke P,Meyer T,Ludolph AC,Haas J,Hemmer Bdoi
10.1111/j.1600-0404.2007.00884.xsubject
Has Abstractpub_date
2007-10-01 00:00:00pages
231-4issue
4eissn
0001-6314issn
1600-0404pii
ANE884journal_volume
116pub_type
杂志文章abstract::Two patients who developed rhabdomyolysis secondary to generalized seizures are presented. Minor traumas of skeletal muscles due to seizures may be associated with myoglobinuria and the development of acute renal failure. The diagnosis rhabdomyolysis may easily be confirmed by following serum creatine kinase. Myoglobi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03746.x
更新日期:1989-03-01 00:00:00
abstract:OBJECTIVES:To assess predictors of headache in patients who had sustained a head injury 22 years earlier. MATERIALS AND METHODS:A questionnaire about headache was sent to 361 subjects hospitalized for head injury in 1974-1975. RESULTS:A total of 249 patients (69%) responded to the questionnaire. The prevalence of hea...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2005.00344.x
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVES:To investigate the frequency of ECG abnormalities suggestive of myocardial ischaemia in patients with severe drug resistant epilepsy and without any indication of previous cardiac disease, assuming that these changes may be of significance for the group of epileptic patients with sudden unexpected death. MA...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00242.x
更新日期:1997-08-01 00:00:00
abstract::A total of 43 patients with multiple sclerosis (MS) consecutively admitted to the Multiple Sclerosis Rehabilitation Hospital in Haslev completed a Danish version of the Laman & Lankhorst Questionnaire (LLQ) on quality of life (qol), and the Beck Depression Inventory (BDI). Twenty-one of the 43 pts completed the questi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb00512.x
更新日期:1996-04-01 00:00:00
abstract::In 100 MS patients, BAEP and tibial SEP abnormality rates increased significantly with disease duration and clinical disability. VEP correlated non-linearly with disease duration, and median nerve SEP correlated with disability. In multifactorial analysis, however, BAEP correlated significantly only with clinical brai...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb04491.x
更新日期:1990-09-01 00:00:00
abstract::This study is a report of 34 cases of Guillain-Barré syndrome (GBS) observed in Bangalore (South India), an endemic area for Japanese encephalitis virus (JEV) infection. Virological and immunological findings suggested an antecedent and recent JEV infection in 21/34 patients. Nineteen patients among them showed high l...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1994.tb02681.x
更新日期:1994-07-01 00:00:00
abstract::The diagnosis of multiple sclerosis (MS) is clinical and verifiable at post mortem. Neuropathological examination of 518 consecutive patients with clinically definite MS revealed a correct diagnosis in 485 cases (94%). Clinical diagnosis had been established by a neurologist in all cases. Erroneous diagnosis included ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03616.x
更新日期:1988-07-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to determine the progression of cognitive dysfunction in primary Sjögren Syndrome (SS). METHODS:Twelve subjects with SS were compared with ten subjects with migraine and ten healthy controls on neuropsychological, mood and fatigue tests at baseline and 8 years later. RESULTS:At fol...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01293.x
更新日期:2010-09-01 00:00:00
abstract::Neurotropin was found to reduce brain oedema in an experimental model of brain infarction in the guinea-pig. A randomized double-blind controlled trial with Neurotropin was performed in 220 patients admitted within 24 h after an acute ischemic stroke. 35 of the neurotropin and 41 of the placebo-randomized patients had...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1600-0404.1994.tb02643.x
更新日期:1994-05-01 00:00:00
abstract::OBJECTIVES - Determine whether bilateral subthalamic nucleus stimulation (STN-DBS) in Parkinson's disease (PD) is associated with an increase in neuropeptide Y (NPY) and/or resistance to inhibition by leptin in relation to post-surgery weight gain. MATERIALS AND METHODS - This prospective study included 20 patients wh...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2010.01469.x
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Major neurological improvement (MNI) at 24 hours represents a marker of early recanalization in ischaemic stroke. Although low body temperature is considered neuroprotective in cerebral ischaemia, some studies have suggested that higher body temperature may promote clot lysis in the acute phase of ischaemic ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12184
更新日期:2014-05-01 00:00:00
abstract::We describe the incidence and explore the quality of registered diagnosis for Guillain-Barré syndrome (GBS) in a population-based retrospective study in South-West Stockholm (SWS), Sweden, during the period 1973-1991. We used data on registered hospital discharges and open-care visits, and from medical records. Medica...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00416.x
更新日期:1995-02-01 00:00:00
abstract::The frequency of post-lumbar puncture headache (PLPH) was registered prospectively in 395 consecutive demented patients at a dementia diagnostic unit. The incidence of PLPH was low, occurring in only 8 patients (2.0%), the severity was mild, and the duration was less than 2 days in all cases but one. The reasons for t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04221.x
更新日期:1993-09-01 00:00:00
abstract::The pulsatility index (PI) registered by the transcranial doppler (TCD) was examined in relation to arterial pCO2 (paCO2) and epidural pressure (ICP). In 10 normal subjects PI was studied during variations in paCO2. In 10 neurosurgical patients with head injuries concomitant measurements of PI and ICP were obtained. T...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04142.x
更新日期:1993-06-01 00:00:00
abstract::A three generation family is presented in which rapidly progressive, early-onset Creutzfeldt-Jakob disease without typical EEG changes segregates as an autosomal dominant disease. An aspartic acid to asparagine mutation at codon 178 of the prion gene, PRNP, co-segregates with the disease. As expected, the disease alle...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.103003139.x
更新日期:2001-03-01 00:00:00
abstract::The main metabolites of the neurotransmitters noradrenaline, dopamine, and serotonin, methoxy-hydroxyphenylglycol (MHPG), homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5HIAA) respectively, were estimated by HPLC with electrochemical detection in CSF samples from 24 patients in coma after head injury, 1 to 1...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05064.x
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVES:To report a peculiar observation of a patient who developed a psychomotor inhibition state after a rapid cessation of lamotrigine (LTG). RESULTS:This man was referred to us at the age of 26 years for presurgical evaluation. His treatment [valproate (VPA), 1200 mg/day and LTG, 200 mg/day] was quickly decreas...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.1c220.x
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVES:To study the clinical outcome of patients with epileptic seizures due to ischemic stroke (IS) of cardiac or artery-to-artery embolism. METHODS:Seizures due to IS of cardiac or artery-to-artery embolism are differentiated by clinical, neuroimaging and cardiovascular test data. RESULTS:From 174 cases with su...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb00629.x
更新日期:1998-03-01 00:00:00
abstract::We report 20 cases of right unilateral spatial neglect caused by lesions in the left cerebral hemisphere. Differences in neuropsychological symptoms and lesions sites are discussed in connection with handedness. Of the right-handed patients, 6 had severe aphasia, 4 had Gerstmann's syndrome, and 1 had pure agraphia, bu...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb06040.x
更新日期:1992-06-01 00:00:00
abstract::In a previous study we found that nine of 47 siblings to multiple sclerosis (MS) patients with a normal neurological examination carry an intrathecal oligoclonal immunopathy with limited specificity, a condition we termed MS immunopathic trait. The purpose of this study is to further characterize the MS immunopathic t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00197.x
更新日期:2004-02-01 00:00:00
abstract::We assessed cognitive performance and its relationship with clinical and anatomic disease severity in MS with mild to moderate handicap; 34 definite MS and 18 healthy subjects matched for age and education were submitted to a neuropsychological test battery. Both groups were examined for anxiety. MS patients underwent...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05052.x
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to analyse the presence of the granulocyte-macrophage colony-stimulating factor (GM-CSF) in human cerebrospinal fluid (SF) of patients affected by multiple sclerosis (MS) in comparison with non-inflammatory neurological diseases. MATERIAL AND METHODS:All SFs were collected from...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb00394.x
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVES:Dopamine neurotransmission is a critical factor for executive function, which is controlled by the prefrontal cortex in humans. Although the contribution of genetic factors to the regulation of brain dopaminergic activity is widely acknowledged, identification of a genotype-phenotype association has not yet ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2012.01673.x
更新日期:2013-01-01 00:00:00
abstract::The density and size of astrocyte-, oligodendrocyte-and neurone nuclei in corpus striatum were determined in rats with CCl4-induced liver encephalopathy by means of an electronic image analyzer. After 8 weeks of CCl4-administration, the astrocyte number had nearly doubled, and astrocytes with increased nuclear size qp...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::The production of oxygen-free radicals and their subsequent peroxidative action on membrane unsaturated fatty acids could be enhanced after subarachnoid hemorrhage. High-dose methylprednisolone (30 mg/Kg i.v.) treatment can antagonize acute SAH-induced brain hypoperfusion and protect the ultrastructural integrity of e...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01617.x
更新日期:1990-10-01 00:00:00
abstract:INTRODUCTION:Most studies revealing intellectual deficits in myotonic dystrophy (MyD) involved heterogeneous groups of patients with respect to intelligence and onset of disease. The present study was undertaken to investigate whether patients with early adult and adult MyD show subtle cognitive deficits despite a norm...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00446.x
更新日期:1995-06-01 00:00:00
abstract::We describe eight patients from three families presenting with myoclonus, ataxia, infrequent seizures and minimal intellectual impairment. All were Arabs from different parts of the Arabian peninsula. The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and Unverr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05126.x
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVES:We used an electrical conditioning stimulation followed by transcranial magnetic stimulation (TMS) to facilitate the occurrence of long latency potentials (LLPs) in order to study the relationship between primary motor evoked potentials (MEPs) and LLPs in the lower limbs. MATERIALS AND METHODS:The study gro...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07323.x
更新日期:1998-12-01 00:00:00
abstract::Several forms of treatment of lower urinary tract functional disorders have been attempted in children with myelomeningocele (MMC). Intravesical electrical stimulation was attempted in 10 patients. Urinary control was achieved in one and in the remaining 9 either the bladder was resistant to stimulation or the childre...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1987.tb07888.x
更新日期:1987-01-01 00:00:00
abstract::Decompressive craniectomy is a neurosurgical technique in which a portion of the skull is removed to reduce intracranial pressure. The rationale for this procedure is based on the Monro-Kellie Doctrine; expanding the physical space confining edematous brain tissue after traumatic brain injury will reduce intracranial ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.2010.01397.x
更新日期:2011-04-01 00:00:00