Abstract:
:We studied a Becker muscular dystrophy (BMD) family with a manifesting carrier. Proximal muscle weakness, pseudohypertrophy of the calves, significantly elevated serum creatine kinase and dystrophic alterations in the muscle biopsy were the characteristic phenotypical features of this manifesting carrier. The recombinant DNA study showed a recombinant chromosome with a crossover between pERT 87-8 and pERT J-Bir in the manifesting carrier. However, the proximal part of the short arm of her X chromosome was identical to a non-manifesting carrier (her sister) and to her affected brother. For this reason, we assumed the BMD mutation was proximal to the crossover. The dystrophin cDNA probes showed no deletion of DMD/BMD gene.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Ionasescu VV,Searby CC,Ionasescu Rdoi
10.1111/j.1600-0404.1989.tb03821.xsubject
Has Abstractpub_date
1989-06-01 00:00:00pages
500-3issue
6eissn
0001-6314issn
1600-0404journal_volume
79pub_type
杂志文章abstract::Recurrent herpes zoster myelitis is very rare. However, a case was recently observed in our hospital. A 43-year-old woman developed myelitis 2 weeks after development of shingles. Her condition was improved by methylprednisolone. Seven months later, she developed myelitis after development of shingles again. Antibody ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04064.x
更新日期:1992-05-01 00:00:00
abstract:OBJECTIVES:A highly adaptive aspect of human memory is the enhancement of explicit, consciously accessible memory by emotional stimuli. We studied the performance of Alzheimer's disease (AD) patients and elderly controls using a memory battery with emotional content, and we correlated these results with the amygdala an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2008.01132.x
更新日期:2009-08-01 00:00:00
abstract::Three patients with well-defined clinical and radiographic lesions have been studied with somatosensory evoked potentials (SSEPs). The data indicate that the primary scalp potentials from stimulation of both the arm and leg (N20 and P40) can be lost with thalamic lesions and would be consistent with these potentials b...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb03162.x
更新日期:1985-01-01 00:00:00
abstract:OBJECTIVE:Guillain-Barre syndrome (GBS) is an acute disease of the peripheral nerves and their roots. Quality of life (QoL) in the first year after acute episode of GBS is still underresearched area. The aim of our study was to investigate QoL in GBS patients during a 6-month follow-up period. METHODS:Multicentric, pr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究
doi:10.1111/ane.13195
更新日期:2020-03-01 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::Genetic investigation of 74 patients with temporal lobe epilepsy, resistant to medication, who underwent unilateral temporal lobectomy 1960-1969. Thirty per cent had a positive family history of epilepsy; 49 per cent of other neurological diseases; and 46 per cent of major psychiatric disorders. Neither of the genetic...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1975.tb05833.x
更新日期:1975-11-01 00:00:00
abstract::A representative sample of 117 patients with definite multiple sclerosis (MS) was interviewed on pain syndromes. Chronic syndromes lasting more than one month included dysaestesthesia, low back pain, spasms, tonic seizures, tightening and painful sensations in the extremities. Acute syndromes included neuralgia, L'Her...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04937.x
更新日期:1991-09-01 00:00:00
abstract::Serum immunoglobulin and HLA investigations were carried out in 21 probands with primary generalized corticoreticular epilepsy (PGCE) and in 26 of their first degree relatives. The mean serum levels of IgG, IgA and IgM in the epileptic probands were not significantly different from controls. In the relatives, however,...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb07867.x
更新日期:1986-12-01 00:00:00
abstract::In a well-defined prospective series of 247 patients with a first-ever supratentorial brain infarct, 15 patients (6%; 95% confidence interval 3-9%) had a large striatocapsular infarct. Twelve (80%) had signs of cortical dysfunction, whereas risk factor profile, frequency of significant carotid stenosis, and frequency ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05089.x
更新日期:1992-09-01 00:00:00
abstract:OBJECTIVE:Assessment of usefulness of magnetoencephalography (MEG) as a novel non-invasive technique in the diagnostic evaluation of patients with recurrent seizures after unsuccessful epilepsy surgery. MATERIAL AND METHODS:Seventeen patients in whom epilepsy surgery had failed underwent reevaluation by means of MEG i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07370.x
更新日期:1998-07-01 00:00:00
abstract::We tested the validity of a self-administered version of the minimal record of disability (MRD) for multiple sclerosis (MS) by measuring the agreement level between patients' self-assessment and neurologists' independent ratings. 96 MS patients and 4 neurologists took part in the experiment; the agreement level was me...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04073.x
更新日期:1993-01-01 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:OBJECTIVES:The purpose of the study was to develop a simplified method for the acquisition and analysis of data from positron emission tomography (PET) using the ligand 11C-L-deuterium-deprenyl. This is motivated by an increased interest in methods to characterize gliosis in neurodegenerative diseases and epilepsy, whi...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.1998.tb07300.x
更新日期:1998-10-01 00:00:00
abstract::Multiple system atrophy (MSA) is a heterogeneous group of central neurological degenerations often associated with diffuse deterioration of the hypothalamic cholinergic neurons. In the hypothesis of an altered cholinergic regulation of vasopressin release, we evaluated vasopressin response to metoclopramide (20 mg i.v...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04047.x
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVES:To determine whether Parkinson's disease (PD) can be distinguished from multiple system atrophy (MSA) on the basis of the assessment of iodine-123 meta-iodobenzylguanidine (123I-MIBG) radioactivity in heart and cardiovascular autonomic function. PATIENTS AND METHODS:Seventeen patients with MSA, 39 with PD, ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,收录出版
doi:10.1111/j.1600-0404.2005.00526.x
更新日期:2006-04-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of Rhesus anti-D immunoglobulin (anti-D) in patients with an autoimmune demyelinating neuropathy. MATERIAL AND METHODS:Three patients with an autoimmune mediated neuropathy received 1000 IU anti-D weekly for 2 months. RESULTS:Two patients worsened gradually during the treatment and...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07380.x
更新日期:1998-07-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to clarify etiologic factors, prior symptoms and clinical features of isole superior cerebellar artery (SCA) territory infarcts. METHODS:All data were collected from consecutive 21 patients with isole SCA infarcts involved on computerized tomography. RESULTS:The risk factors i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07310.x
更新日期:1998-10-01 00:00:00
abstract:OBJECTIVES:Cognitive impairment is frequent in children with frontal lobe epilepsy (FLE). Its etiology remains unknown. With diffusion tensor imaging, we have studied cerebral white matter properties and associations with cognitive functioning in children with FLE and healthy controls. METHODS:Thirty children aged 8-1...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12183
更新日期:2014-04-01 00:00:00
abstract::Debate about the lesion site in the Miller Fisher syndrome is still going on. We studied a patient with features of the Miller Fisher syndrome in whom arguments for both central and peripheral nervous system dysfunction were found. ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03861.x
更新日期:1989-08-01 00:00:00
abstract::Immunoglobulin G (IgG) band patterns were investigated in cerebrospinal fluid (CSF) from 19 patients with myasthenia gravis (MG) in a search for abnormalities indicating central nervous system (CNS) involvement in this disorder. Using the isoelectric focusing (IEF) technique and antiserum immunoblotting against IgG, w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb00977.x
更新日期:1990-03-01 00:00:00
abstract:BACKGROUND:No systematic study has been made to separate age-related clinical deterioration and dysfunctional brain areas from those associated with Parkinson's disease (PD). METHODS:This study included 73 de novo patients with PD and 43 age-matched controls. All subjects underwent [(18)F]-fluorodeoxy glucose (FDG) po...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2010.01446.x
更新日期:2011-09-01 00:00:00
abstract:OBJECTIVE:Multiple sclerosis (MS), Parkinson's disease (PD) and stroke (ST) subjects show balance impairments due to damage of the balance control system. The objective of the study was to assess the impact of MS, PD and ST on upright posture in eyes open condition and when visual and/or proprioceptive inputs are alter...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12466
更新日期:2016-05-01 00:00:00
abstract::The catabolism of orally and subcutaneously administered 14C histamine was studied in myotonic dystrophy patients. No definite abnormalities were observed as for subcutaneously administered histamine. The catabolism of orally administered histamine followed two distinct patterns: In patients with a relatively low endo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1977.tb01449.x
更新日期:1977-11-01 00:00:00
abstract:OBJECTIVES:When the vascular disorder of the cochleovestibular system is mentioned, the diagnosis is based on exclusion of other diseases. Since arteries of the cochleovestibular system cannot be directly visualized, physicians must deduce from the vascular risk factors and the vascular lesion of other territories to t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.104002068.x
更新日期:2001-08-01 00:00:00
abstract::With the macrophage electrophoretic mobility (MEM) test of Field & Caspary, lymphocyte sensitization to thyroid antigen (F1-fraction) is demonstrable in all subjects--multiple sclerosis (MS) patients, those with other (destructive) neurological diseases (OND) and normals. The MEM-LAD test enables a further differentia...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1976.tb04324.x
更新日期:1976-01-01 00:00:00
abstract::Twenty-seven patients with CT-scan-diagnosed arachnoid cysts in the middle cranial fossa were studied. Five (18%) presented with progressive symptoms related to raised intracranial pressure which had developed after minor trauma and secondary bleeding, 12 (44%) presented with non-progressive symptoms, and 10 (37%) exh...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01595.x
更新日期:1990-08-01 00:00:00
abstract::Status epilepticus (SE) describes an enduring epileptic state during which seizures are unremitting and tend to be self-perpetuating. We describe the clinical phases of generalized convulsive SE, impending SE, established SE, and subtle SE. We discuss the physiological and biochemical cascades which characterize self-...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.2007.00803.x
更新日期:2007-04-01 00:00:00
abstract:OBJECTIVE:Blepharoclonus (BLC) denotes a large amplitude, involuntary tremors of the orbicularis oculi muscles, observed during gentle closure of the eyelids. BLC may follow major head trauma. Four patients with Arnold-Chiari malformation (ACM) and BLC are described. MATERIALS AND METHODS:The first patient had facial ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.104002113.x
更新日期:2001-08-01 00:00:00
abstract::The in vitro protein synthetic capactiy of brain slices from guinea-pigs in the late stage (17-18 days post-induction) of experimental allergic encephalomyelitis was increased over that of Freund's adjuvant injected controls, as determined by the rate of (14C)-leucine incorporation into both tris-soluble and tris-inso...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1975.tb07602.x
更新日期:1975-03-01 00:00:00
abstract::Two new components of the human SEP upon stimulation of the contralateral median nerve at the wrist have been identified. Such components have been called N16 and N17, according to their polarity and latency. N16 and N17, as well as the N14-P15 complex, are generated by separate subcortical dipoles. Particularly, they...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1978.tb02896.x
更新日期:1978-12-01 00:00:00