Abstract:
OBJECTIVES:To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked Charcot-Marie-Tooth disease (CMTX) patients. MATERIAL AND METHODS:We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS:One patient with Val63Ile had deafness, low intelligence, saccadic eye movement, upper extremity distal dominant muscle weakness and normal sensation. Another patient with Glu186Lys had severe sensorineural deafness at the age of 6 years, but did not develop muscle weakness until the age of 20 years. Two patients with Arg22Gln had typical CMT1A-like clinical features, no CNS symptoms and obvious onion bulb formations. Two siblings with deletion of the entire GJB1 gene had mild to moderate lower extremity muscle weakness and sensory disturbance without CNS involvement. CONCLUSION:These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Takashima H,Nakagawa M,Umehara F,Hirata K,Suehara M,Mayumi H,Yoshishige K,Matsuyama W,Saito M,Jonosono M,Arimura K,Osame Mdoi
10.1034/j.1600-0404.2003.01317.xsubject
Has Abstractpub_date
2003-01-01 00:00:00pages
31-7issue
1eissn
0001-6314issn
1600-0404pii
1o317journal_volume
107pub_type
杂志文章abstract:OBJECTIVES:To investigate efficacy and safety of entacapone across phase III studies in Parkinson's disease (PD) with wearing-off symptoms. METHODS:Retrospective, pooled analysis of four phase 3 randomized, double-blind, placebo-controlled studies with entacapone. RESULTS:475 of 808 patients with PD received entacapo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析
doi:10.1111/ane.12278
更新日期:2014-10-01 00:00:00
abstract::Adult mice were injected intramuscularly in the region of the vibrissae muscles on the left side of the nose with a small volume of mercuric chloride dissolved in distilled water. The animals were killed after 1-6 weeks and fixed by whole-body perfusion. Frozen sections were taken from different levels of the brain st...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01612.x
更新日期:1990-10-01 00:00:00
abstract::Patients with homocystinuria excrete a large amount of metal in their urine. Homocysteine similar to penicillamine, administration to methylmercury treated rats resulted in a large amount of urinary methylmercury excretion. These results suggested that the total metal amounts in the whole body of patients with homocys...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05130.x
更新日期:1992-11-01 00:00:00
abstract::The first case of benign IgAK monoclonal gammopathy associated with peripheral neuropathy is described. Dysautonomia is an unusual, yet prominent, manifestation of neuropathy in this patient. Electrodiagnostic testing and nerve biopsy were compatible with demyelination and axonal loss. Myelin sheath, perineural, and e...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb04602.x
更新日期:1986-06-01 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::A 54 year-old woman showed the unusual association of a Guillain-Barré syndrome and opsoclonus, a rare eye movement characterized by involuntary bursts of jerking, ataxic and multidirectional saccades, without an intersaccadic interval. Since opsoclonus is a phenomenon described exclusively in CNS diseases, the case r...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04061.x
更新日期:1992-05-01 00:00:00
abstract:OBJECTIVE:To validate the diagnosis of idiopathic intracranial hypertension (IIH) from the Swedish National Patient Register (NPR) and investigate the incidence of IIH, as well as co-morbidities and medication use in a large Swedish population-based sample. METHODS:We searched the NPR to find all patients ≥18 years ol...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12742
更新日期:2017-11-01 00:00:00
abstract::To investigate the blood-brain barrier (BBB function), serum and cerebrospinal fluid (CSF) from 118 patients with Alzheimer's disease (AD) and 50 healthy controls was analyzed with regard to albumin concentrations. For the AD group, clinical vascular factors were also recorded. The CSF/serum albumin ratio was used as ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01563.x
更新日期:1990-04-01 00:00:00
abstract:PURPOSE:To evaluate the relationship between people with epilepsy and birth order. METHODS:A case-control study of 336 epileptics, 15 years and above, and their 1961 full siblings. The data was analysed by birth order and then stratified by sibship size. The 95% confidence interval (CI) for each odds ratio (OR) was ob...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.1o142.x
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVES:To evaluate the presence of the afterdischarge activity following M- and F-waves in patients with peripheral neuropathies with or without muscle cramps. MATERIAL AND METHODS:Ten patients with peripheral neuropathies complaining of frequent muscle leg cramps (Group 1) and 14 patients with peripheral neuropat...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102006359.x
更新日期:2000-12-01 00:00:00
abstract::Previous reports concerning the treatment of symptoms deriving from prolapsed lumbar disc with systemic administration of the potent steroid dexamethasone, have shown favourable results. The present clinical study includes 39 patients with symptoms of prolapsed lumbar disc, treated in a controlled double-blind investi...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.1982.tb03055.x
更新日期:1982-01-01 00:00:00
abstract::A patient with paraneoplastic encephalomyelitis (PEM) and small cell lung cancer had a clinical presentation of acute polyneuritis. The patient had an antibody (anti-Hu) restricted to nuclei of neurons identical to that reported in patients with subacute sensory neuronopathy and lung cancer. This finding further suppo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1987.tb07928.x
更新日期:1987-04-01 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::Fifteen epileptic patients had their dose of anticonvulsant drugs changed twice, each time by 30-50 per cent of the initial medication. Before the dose change, the patients were given six especially adapted mental performance tests, which were designed to measure vigilance, reaction time and certain aspects of memory....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1975.tb05827.x
更新日期:1975-10-01 00:00:00
abstract:OBJECTIVES:To estimate the total costs of multiple sclerosis (MS) for all Canadians in 1994. METHODS:Prevalence-based study estimating disease-related societal costs for Canadians with MS in 1994. The human capital approach was used to estimate the value of lost productivity due to illness. Two components were reveale...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00208.x
更新日期:1997-05-01 00:00:00
abstract:INTRODUCTION:In patients with cervical root syndromes, the relation between clinical findings and EMG results, the value of the registration of the H-reflex latency of the flexor carpi radial muscle (HFCR) and the rate of recovery of EMG abnormalities following surgery are unclear. METHODS:In 68 patients with cervical...
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.1600-0404.1995.tb00138.x
更新日期:1995-10-01 00:00:00
abstract:AIMS:To conduct a psychometric analysis to determine the adequacy of instruments that measure cognition in Alzheimer's disease trials. BACKGROUND:Both the Alzheimer's Disease Assessment Scale - Cognition (ADAS-Cog) and the Neuropsychological Test Battery (NTB) are validated outcome measures for clinical trials in Alzh...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12153
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVES:Evaluate interim long-term tolerability, safety and efficacy of adjunctive perampanel, a novel α-amino-3-hydroxy-5-methyl-5-isoxazolepropionic acid (AMPA)-receptor antagonist, in patients with refractory partial-onset seizures. MATERIALS AND METHODS:Study 207, an open-label extension (OLE) study (ClinicalTr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/ane.12001
更新日期:2012-10-01 00:00:00
abstract:BACKGROUND:The epidemiology, diagnosis, and treatment of motor neuron disease (MND) in Chinese patients are ill known. METHODS:A registered study of 461 MND patients was conducted across 10 facilities in 7 Chinese cities from February 2009 to March 2010. RESULTS:Patients were classified as amyotrophic lateral scleros...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究
doi:10.1111/ane.12240
更新日期:2014-08-01 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::The present communication is devoted to investigating the possibility that in myotonic dystrophy (MyD) a decreased ATP utilization by the membrane may produce modifications in glycoprotein structure and/or in the supramolecular arrangement of some membrane proteins. The study was carried out a) by determining the memb...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb03119.x
更新日期:1982-06-01 00:00:00
abstract::Adenylate kinase (AK) was determined in a lumbo-cisternal cerebrospinal fluid (CSF) gradient and in CSF from patients with mental deterioration. AK activity was unchanged in the gradient and different from albumin and albumin ratio (alb CSF/albumin serum), a blood-brain barrier marker in the same gradient. No differen...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb00912.x
更新日期:1985-11-01 00:00:00
abstract::Serum and CSF from 53 vascular dementia (VD) patients and 50 controls were analysed to investigate the possibility of an intrathecal synthesis of IgG, defined as an elevated IgG index (greater than or equal to 7) and/or presence of oligoclonal IgG in cerebrospinal fluid (CSF), but not in serum. Five (9%) patients and ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb00955.x
更新日期:1990-02-01 00:00:00
abstract::Authors addressed the question whether the byosynthesis and the release of specific eicosanoids may occur in human brain cortex, and if the qualitative pattern of arachidonic acid metabolism is similar to that observed in experimental SAH. Human brain samples from 18 patients operated on for anterior communicating art...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05063.x
更新日期:1992-08-01 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:INTRODUCTION:Because of the limited information on cervical spondylotic radiculopathy, we conducted a door-to-door two-phase survey in a Sicilian municipality. MATERIAL AND METHODS:We first screened for cervical spondylotic radiculopathy among the inhabitants of the municipality: (N = 7653, as of the prevalence day, N...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb00196.x
更新日期:1996-02-01 00:00:00
abstract::This study investigated whether there are predictors for initial severity of ideomotor apraxia (IMA) in focal left-hemisphere vascular patients. One hundred and twenty-nine subjects were examined between 15 and 30 days post-onset. Twenty-five patients with bilateral lesions were also studied in order to delineate the ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1987.tb03557.x
更新日期:1987-08-01 00:00:00
abstract:OBJECTIVE:LMNB1-related autosomal dominant leukodystrophy is caused by an overexpression of the protein lamin B1, usually due to a duplication of the LMNB1 gene. Symptoms start in 5th to 6th decade. This slowly progressive disease terminates with death. We studied brain glucose metabolism in this disease using 18 F-flu...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13024
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVES:We evaluated the expression of chemokine-like factor (CKLF) in biopsied muscle fibers in inflammatory myopathies, non-inflammatory myopathies and neurologically diseased controls. MATERIALS AND METHODS:We studied the expression of CKLF in 15 polymyositis (PM), five dermatomyositis (DM), 15 non-inflammatory ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00990.x
更新日期:2008-08-01 00:00:00
abstract:OBJECTIVES:To investigate eventual differences between women and men with Parkinson's disease (PD) before and after surgery, with respect to clinical status, disability and health-related quality of life (HRQoL). MATERIAL AND METHODS:Twenty-four men and 14 women with PD received a total of 46 surgical procedures (pall...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00092.x
更新日期:2003-07-01 00:00:00