Abstract:
OBJECTIVES:Myotonic dystrophy type 1 (DM1) is caused by large expansions of cytosine-thymine-guanine (CTG)-repeats in myotonic dystrophy protein kinase (DMPK)-gene. This gene is highly polymorphic in healthy individuals. It has been proposed that expanded alleles originated from the group of large sized normal alleles. If this is correct, one should expect a positive correlation between the frequency of large sized normal alleles and a prevalence of this disorder in a population. In this paper we determined the distribution of alleles of DMPK gene in healthy Yugoslav population. MATERIAL AND METHODS:A sample of 235 healthy individuals of Yugoslav origin have been genotyped for the alleles of DMPK locus. RESULTS:We found 22 different alleles, ranging in size from 5 to 29 repeats. Among 470 chromosomes studied, 41 chromosomes had more than 18 repeats (8.72%). CONCLUSIONS:Relatively high frequency of large sized normal alleles found in our population, suggest that prevalence of DM1 in Yugoslavia should not be different from the prevalence in other European populations.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Culjković B,Stojković O,Vukosavić S,Savić D,Rakocevic V,Apostolski S,Romac Sdoi
10.1034/j.1600-0404.2002.00006.xsubject
Has Abstractpub_date
2002-01-01 00:00:00pages
55-8issue
1eissn
0001-6314issn
1600-0404pii
_006journal_volume
105pub_type
杂志文章abstract:OBJECTIVES:Cerebral hypoperfusion has been evidenced in patients with periventricular white matter lucency (PWML), however, our knowledge is limited regarding vasoreactivity (VR) changes in these patients. Therefore, we compared the cerebral blood flow velocity (CBFV) responses during different vasoregulatory challenge...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00316.x
更新日期:2004-10-01 00:00:00
abstract::The composition of the free amino acid pools in various brain tumors and in normal brains obtained at surgery or at autopsy is determined with an automatic amino acid analyzer and the results statistically evaluated. The tumors have lower ratios of GABA in the pools than the normal brain; tumors with higher GABA ratio...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1979.tb02985.x
更新日期:1979-01-01 00:00:00
abstract::The results of intra-operative cortical EEG recordings (ECoG) were assessed in 30 patients with medically refractory complex partial seizures submitted to temporal lobectomy. Interictal spiking was most frequently recorded from mesial temporal lobe structures (amygdaloid-hippocampal region) and from the temporal neoco...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04651.x
更新日期:1991-02-01 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 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
更新日期:2004-03-01 00:00:00
abstract:BACKGROUND:After surgery for ruptured anterior communicating artery (ACoA) aneurysm, several patients who have achieved a favorable neurological outcome yet have been observed to suffer from a poor cognitive outcome. The aim of this study was to explore the possible effects of temporary clip applications on frontal lob...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1600-0404.2005.00483.x
更新日期:2005-11-01 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::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::We compared orosomucoid levels in cerebrospinal fluid (CSF) in patients with aseptic meningitis, multiple sclerosis, ischemic and hemorrhagic stroke, CNS-affecting leukemia/lymphoma, and CNS-tumor with the levels in a reference group not having neurologic diseases. Because of possible blood brain barrier damage, we co...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1987.tb05454.x
更新日期:1987-05-01 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:BACKGROUND:Presence of mild cognitive impairment (MCI) as a predictor for Parkinson's disease dementia (PDD) has been discussed from a clinical perspective. Recently, a Movement Disorder Society (MDS) commissioned Task Force published guidelines for PD-MCI. However, long-term follow-ups of the PD-MCI guidelines for the...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12375
更新日期:2015-08-01 00:00:00
abstract::From December 1976 through March 1982, 188 patients entered an open non-random study carried out on hospitalized patients with a history of transient ischemic attacks or amaurosis fugax. Ninety-two patients received peroral anticoagulants usually combined with heparin treatment during the first days of treatment, and ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb03232.x
更新日期:1985-06-01 00:00:00
abstract::The cerebrovascular response to arterial hypoxia was studied during blockade of the vascular dopamine receptors and during alpha-adrenergic receptor stimulation and blockade in anaesthetized dogs. Dopamine receptor blockade with pimozide or haloperidol invariably decreased the degree of hypoxic vasodilatation in the ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1978.tb02833.x
更新日期:1978-02-01 00:00:00
abstract:OBJECTIVE:Patients treated with carbamazepine (CBZ) have increased serum levels of total cholesterol (TC), high-density lipoproteins (HDL), and low-density lipoproteins (LDL). We aimed to investigate whether these changes of serum lipids are reversible after CBZ withdrawal. MATERIAL AND METHODS:We used a prospective, ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,随机对照试验
doi:10.1111/ane.12534
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVE:In a previous study, we found that nine of the 47 siblings to multiple sclerosis (MS) patients with a normal neurologic examination carry an intrathecal oligoclonal immunopathy with limited specificity, a condition we termed MS immunopathic trait. Here we searched for neurological dysfunction with increased s...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00130.x
更新日期:2003-11-01 00:00:00
abstract::Electromyograms (EMGs) are usually considered artifacts during electroencephalographic (EEG) recording for determination of electrocerebral silence (ECS). Appearance of scalp motor unit activity, however, may reflect residual brainstem function and can introduce difficulty in establishing a secure diagnosis of brain d...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb04638.x
更新日期:1986-08-01 00:00:00
abstract:OBJECTIVES:The visual, somatosensory, and vestibular systems are critical for establishing a sensorimotor set for postural control and orientation. The goal of this study was to assess how individuals with a vestibular-related disorder keep their balance following prolonged stance on an inclined surface. We hypothesize...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12658
更新日期:2017-06-01 00:00:00
abstract::Both carotid endarterectomy (CEA) and carotid artery stenting (CAS) are common treatments for carotid artery stenosis. Several randomized controlled trials (RCTs) have compared CEA to CAS in the treatment of carotid artery stenosis. These studies have suggested that CAS is more strongly associated with periprocedural ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.13062
更新日期:2019-04-01 00:00:00
abstract::Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. Electrodiagnostic testing and muscle biopsy are consistent with a myopathy. An autosomal d...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03302.x
更新日期:1986-04-01 00:00:00
abstract:UNLABELLED:FUNDAMENTALS AND OBJECTIVE: Multiple sclerosis (MS) is the prototype of demyelinating disease, but recently, it has been shown that the existence of axonal lesions contribute to irreversible central nervous system damage in this disease. Tau proteins are considered to be important for maintaining the stabili...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.01370.x
更新日期:2002-12-01 00:00:00
abstract::In Sweden, the annual incidence of surgery for hydrocephalus was 3.4 per 100,000 adults between the years 1996 and 1998. The most common indication for surgery was normal pressure hydrocephalus (NPH; 47%), followed by high-pressure hydrocephalus (27%). Seventy-three percent of the patients had communicating hydrocepha...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2005.00451.x
更新日期:2005-08-01 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:OBJECTIVE:To replicate the treatment study by Behan et al. (1990) using current research criteria for Chronic Fatigue Syndrome (CFS). METHOD:Fifty patients who fulfilled the Oxford Criteria for CFS were randomly allocated to treatment with either Efamol Marine or placebo for 3 months. They were seen monthly and comple...
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.1600-0404.1999.tb00667.x
更新日期:1999-02-01 00:00:00
abstract::One cause of ischemic brain injury is free radical formation during recirculation. Allopurinol inhibits xanthine oxidase, an important source of free oxygen radicals. It is known that allopurinol pre-treatment has a protective action during cerebral ischemia. In the present study we exposed slices from the rat hippoca...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04702.x
更新日期:1991-05-01 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
abstract::A retrospective study of variations of therapeutic response (dyskinesia and on-off phenomenon) in Parkinson's disease was conducted on 278 patients treated with levodopa for at least 6 months and hospitalized at National Neurological Institute "C. Besta" of Milan between 1974 and 1984. Variations of therapeutic respon...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb00983.x
更新日期:1990-05-01 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::The role of metabolic abnormalities in the development of diabetic neuropathy is controversial. To investigate the peripheral nerve function and the influence of hyperglycemia on nerve conduction in insulin-dependent diabetes, a one-year neurophysiological study was carried out in 30 type 1 diabetic patients ranging i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03905.x
更新日期:1989-11-01 00:00:00
abstract::Cyclic adenosine 3',5'-monophosphate (cAMP) and cyclic guanosine 3',5'-monophosphate (cGMP) were measured in cerebrospinal fluid (CSF) and plasma from 7 patients with bacterial meningitis, 9 patients with serous meningitis, 5 patients with idiopathic polyneuritis and 15 reference patients. A significantly (P less than...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1984.tb07796.x
更新日期:1984-03-01 00:00:00
abstract::The urinary excretion of uronic acid and the electrophoretic composition of urinary glucosaminoglycans were studied in 10 members of a family, of which 3 had progressive familial myoclonus epilepsy. This seems to be the first detailed investigation of the excretion of urinary glucosaminoglycans in patients suffering f...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1975.tb05776.x
更新日期:1975-09-01 00:00:00