Abstract:
OBJECTIVES:To characterise a Swedish family with a rare hereditary myopathy with unique sarcoplasmic inclusion bodies in the muscle biopsy. MATERIALS AND METHODS:Part of the pedigree was described in 1980. Nine new members of the included and the phenotype further characterised through clinical, neurophysiological and radiological investigations. RESULTS:Six of the nine subjects displayed clinical and/or laboratory evidence of myopathy with sarcoplasmic inclusions. CONCLUSIONS:Sarcoplasmic body myopathy is distinguished from other distal myopathies by a more malignant course and early involvement of thenar muscles and hand flexors. Five to ten years after onset the affected subjects develop distal, as well as proximal, weakness and atrophy and the majority require a wheelchair after ten to fifteen years of disease. The disorder is manifested through elevated creatine kinase levels and the presence of the pathognomonic sarcoplasmic inclusions prior to clinical signs and symptoms.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Engvall M,Ahlberg G,Hedberg B,Edström L,Ansved Tdoi
10.1111/j.1600-0404.2005.00475.xsubject
Has Abstractpub_date
2005-10-01 00:00:00pages
223-7issue
4eissn
0001-6314issn
1600-0404pii
ANE475journal_volume
112pub_type
杂志文章abstract::Factors at presentation which influenced the course of the disease and response to treatment were assessed in 125 de novo patients with Parkinson's disease. Ninety-eight patients were available for re-assessment at 5 years. Older patients presented earlier after the onset of symptoms, deteriorated more rapidly, and we...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/j.1600-0404.1995.tb00480.x
更新日期:1995-12-01 00:00:00
abstract::We reviewed the medical records and CT scans of 138 patients hospitalized for spontaneous supratentorial hemorrhage and conservatively treated. Seventeen clinico-anamnestic variables and five CT desumed findings were collected. Using univariate analysis we found eight significant predictors of 30-day mortality: intrav...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb07011.x
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To prospectively detect significant transient F wave abnormalities obtained after exercise in patients with peripheral arterial disease (PAD) and to assess the potential diagnostic sensitivity of dynamic F wave study in such a context. PATIENTS AND METHODS:A series of 40 electrical stimuli were delivered to ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00725.x
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abstract::We present clinical and virological data on 9 patients, 7 women and 2 men aged 31-56 years, with recurrent aseptic meningitis (Mollaret's meningitis). Polymerase chain reaction detected Herpes simplex virus type 2 DNA in cerebrospinal fluid samples from all patients collected during their latest attacks of meningitis....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07296.x
更新日期:1998-09-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Carotid artery disease (CAD) is able to critically impair cerebral autoregulation which increases the risk for stroke. As therapeutic strategy largely depends on the degree of CAD, we investigated whether this gradation is also related to significant changes in autoregulatory capacity. We applied...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00210.x
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abstract:OBJECTIVE:To compare the sensitivity and specificity of isoelectric focusing (IEF) with immunofixation, agarose gel electrophoresis (AGE) and the IgG index in detecting intrathecally synthesized IgG in multiple sclerosis (MS) and in other nervous system disorders. MATERIALS AND METHODS:Cerebrospinal fluid (CSF) and se...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102005322.x
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abstract:OBJECTIVES:Subjective feelings of memory decline are fairly common among the elderly. The causes of this are heterogeneous, and may be related to both affective and cognitive disorders. We attempted to explore the associations between subjective and cognitive measures. MATERIALS AND METHODS:Healthy subjects were studi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01159.x
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVE:We evaluated the differences in brain morphology among patients with juvenile myoclonic epilepsy according to the occurrence of absence seizures. MATERIALS AND METHODS:Twenty-one juvenile myoclonic epilepsy patients with (n = 6) and without (n = 15) absence seizures were enrolled. We analyzed whole-brain T1-...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12436
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVES:In this study the frequency of inherited thrombophilic risk factors in a population of German CVT patients and their influence on clinical outcome were evaluated. MATERIAL AND METHODS:Twenty-five patients (age 37.1 +/- 16.3 years) with CVT were screened for inherited coagulation disorders. All participants ...
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pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102001031.x
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abstract:OBJECTIVES:The prognosis after Lyme neuroborreliosis (LNB) is debated. The aim of this study was to assess health-related Quality of Life (QoL) and neurological symptoms 30 months after treatment in European patients with LNB. MATERIALS AND METHODS:In a prospective case-control designed study, we investigated 50 well-...
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pub_type: 杂志文章
doi:10.1111/j.1600-0404.2010.01482.x
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abstract::Over last fifty years, intravenous (iv) phenytoin (PHT) loading dose has been the treatment of choice for patients with benzodiazepine-resistant convulsive status epilepticus and several guidelines recommended this treatment regimen with simultaneous iv diazepam. Clinical studies have never shown a better efficacy of ...
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pub_type: 杂志文章,评审
doi:10.1111/ane.12928
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:To describe successful treatment of tardive dyskinesia with levetiracetam. BACKGROUND:Tardive dyskinesia is a late-onset movement disorder caused by exposure to dopamine receptor blocking agents, most commonly neuroleptics. Metoclopramide is frequently used to treat gastrointestinal dysmotility. It has antid...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00950.x
更新日期:2008-05-01 00:00:00
abstract::Sympathetic denervation of the brain vessels was performed uni- or bilaterally in 13 adult rabbits, and cortical cold lesions were induced bilaterally 10-18 days afterwards. After a further 4-35 days the vascular and morphological changes in the lesion areas were studied histologically and with angiography. No differe...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1976.tb04801.x
更新日期:1976-09-01 00:00:00
abstract::Soleus H-reflexes during tonic contractions and isometric ramp contractions of the ankle extensors in spastic and healthy subjects were measured. During the tonic contractions, the H-reflex increased with the contraction level. The increase was highest in the patients (p < 0.001). The facilitation of the H-reflex duri...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb05352.x
更新日期:1993-11-01 00:00:00
abstract::Mitochondrial DNA (mtDNA) deletions have been noted in small quantities in a handful of atypical cases of myotonic dystrophy and there are clinical and pathological parallels between this autosomal dominant disease and certain mitochondrial myopathies where such deletions are well recognised. We studied 20 individuals...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04071.x
更新日期:1993-01-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13053
更新日期:2019-03-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1976.tb04344.x
更新日期:1976-03-01 00:00:00
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pub_type: 杂志文章,meta分析,评审
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更新日期:2017-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07310.x
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abstract::Levodopa (LD) sales from wholesalers to pharmacies during the periods, 1977-1989 in Denmark, 1981-1989 in Greenland, and April 1988-May 1989 in Danish counties and the Faroe Islands, were evaluated using a reported method and a procedure expressly developed for assessment of random variation comparative levodopa use (...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00413.x
更新日期:1995-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/ane.13322
更新日期:2020-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/ane.12301
更新日期:2015-03-01 00:00:00
abstract::The mode of action of dantrolene sodium was studied in 11 multiple sclerosis patients with spastic paresis of the legs by measurements of changes in electromyographic and mechanomyographic proprioceptive reflex responses and in voluntary power. Dantrolene sodium 0.5 mg per kg body weight given intravenously clearly re...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1979.tb02941.x
更新日期:1979-06-01 00:00:00
abstract::X-linked adrenoleukodystrophy/adrenomyeloneuropathy presents a wide variation of clinical manifestations and may mimic several diseases. A screening investigation by measuring plasma saturated very long-chain fatty acids was performed in two groups of patients. Among six patients with hereditary spastic paraparesis on...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04015.x
更新日期:1992-02-01 00:00:00
abstract::Rabbit antiserum to a citric acid extract of human skeletal muscle (CA) stained epithelial thymoma cells as well as skeletal muscle. Thymomas from two myasthenia gravis (MG) patients showing no circulating anti-CA antibodies prior to thymectomy were also stained by the antiserum. Thus, in these patients as well, the t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03300.x
更新日期:1986-04-01 00:00:00
abstract:OBJECTIVES:To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR). MATERIALS AND METHODS:Six patients from five families underwent neurological examination and magnetic res...
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pub_type: 杂志文章
doi:10.1111/j.1600-0404.2010.01335.x
更新日期:2011-01-01 00:00:00
abstract:INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next-generation sequencing technology, at present more than 70 CMT-associated genes are known. We investigated whether variants in the DCTN2 could cause CMT. MATERIA...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12515
更新日期:2016-07-01 00:00:00
abstract::EEG, regional cerebral blood flow (rCBF) and neuropathological autopsy data were studied in 17 patients with presenile dementia. RCBF was measured in 14 cases using the intra-arterial-133-Xenon clearance technique. The neuropathological study included semi-serial whole brain microscopical sections in which the severit...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1977.tb01414.x
更新日期:1977-08-01 00:00:00
abstract:OBJECTIVE:Bilateral hippocampal abnormality is frequent in mesial temporal lobe sclerosis and might affect outcome in epilepsy surgery. The objective of this study was to compare the lateralization of interictal and ictal scalp EEG with MRI T2 relaxometry. MATERIAL AND METHODS:Forty-nine consecutive patients with intr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00305.x
更新日期:2004-09-01 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