Abstract:
:A large Japanese family with probable Machado-Joseph disease (MJD) is described. Detailed neurological examination in 12 patients from 3 generations revealed variable combinations of cerebellar ataxia, ocular paresis, difficulty in eye-lid opening, bulging eyes, facial "myokymia", facial dystonia, pyramidal signs, extrapyramidal signs, and peripheral neuropathy. Mode of inheritance was in all likelihood autosomal dominant. Blood components were typed for 19 conventional chromosome markers. Although association of the affected members with the PGM1 system was high, linkage analysis failed to reveal any markers studied with a lod score higher than 3. The unique constellation of symptoms appeared sufficient to rule out other types of spinocerebellar degeneration. When there is a typical case in a given family, MJD appears to be a clinically recognizable entity.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Takiyama Y,Ikemoto S,Tanaka Y,Mizuno Y,Yoshida M,Yasuda Ndoi
10.1111/j.1600-0404.1989.tb03741.xsubject
Has Abstractpub_date
1989-03-01 00:00:00pages
214-22issue
3eissn
0001-6314issn
1600-0404journal_volume
79pub_type
杂志文章abstract::Outcome was studied prospectively in 28 consecutive patients with occlusion of the middle cerebral artery (MCA). They comprise a subgroup of 101 consecutive patients with TIA or stroke less than or equal to 75 years of age, admitted within 72 h after the stroke. Cerebral angiography and CT-scan were performed within 1...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04692.x
更新日期:1991-04-01 00:00:00
abstract::The possibility of disturbed dopamine and serotonin metabolism in senile dementia of Alzheimer type was studied. The basal concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF) were studied in 28 patients with senile dementia of Alzheimer type and in 13 controls...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1981.tb04392.x
更新日期:1981-08-01 00:00:00
abstract::Further studies pm yjr rofr,op;phu pg ,i;yo;r dv;rtpdod (MS) IN Finland were carried out in three different types of geographical unit: in counties, combined clerical districts, and single clerical district. For longitudinal studies, the prevalence of MS by present domicile was compared to that by place of birth, and ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1975.tb01362.x
更新日期:1975-02-01 00:00:00
abstract:OBJECTIVES:We aimed to investigate associations between neuropsychological indices and normalized volumes of supratentorial structures, and the area of the corpus callosum. MATERIALS AND METHODS:We studied 40 patients with clinically definite MS, using 3D-acquired MRI (MPRAGE, Magnetization Prepared Rapid Acquisition ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.00270.x
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVES:The aetiological role of common genetic mutations was analysed in a subgroup of stroke patients. MATERIAL AND METHODS:A total of 406 patients were examined because of ischaemic stroke. After a detailed clinical scrutiny, 5 were found who did not exhibit any of the classical clinical risk factors. In this cl...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102002124.x
更新日期:2000-08-01 00:00:00
abstract::We investigated the EEG frequency distribution by quantitative EEG (QEEG) in 28 children with type 1 diabetes and 28 age- and sex-matched control children. Among the diabetic children, 15 had experienced episodes of severe hypoglycemia (SH group) and 13 had not experienced such episodes (non-SH group). The EEG analysi...
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.1600-0404.1996.tb00017.x
更新日期:1996-06-01 00:00:00
abstract::A total of 158 recordings of brain stem auditory evoked potentials (BAEPs) were obtained in 121 patients with multiple sclerosis. A statistically significant increased incidence of abnormality and diffusely abnormal recordings was found with increasing duration and severity of symptoms. Alterations in follow-up record...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1980.tb01478.x
更新日期:1980-03-01 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:OBJECTIVE:To describe clinical features of a patient with secretions of atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) during an epileptic attack. PATIENT:A 65-year-old woman experienced frequent bouts of polyuria, pyrexia and general fatigue after several years of a cerebral contusion involving ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.01228.x
更新日期:2002-10-01 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: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: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::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 ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.12928
更新日期:2018-06-01 00:00:00
abstract::Serum levels of the soluble interleukin-2 receptor (sIL-2R), an indicator of T cell activation, were significantly elevated in chronic progressive MS (CPMS) patients, clinically stable MS patients and in patients with other neurological diseases (OND) as compared to healthy controls. Levels of sIL-2R in steroid treate...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04955.x
更新日期:1991-10-01 00:00:00
abstract:UNLABELLED:Soluble APO-1 (sAPO-1) may prevent apoptosis of lymphocytes induced by activation of the APO-1/Fas receptor. OBJECTIVES:To determine sAPO-1 levels in the serum of multiple sclerosis (MS) patients and controls in order to investigate if abnormal lymphocyte apoptosis occurs in this disease. METHODS:Serum sam...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00100.x
更新日期:1997-04-01 00:00:00
abstract::The concentrations of IgA, IgG and IgM were determined in sera of 16 patients, all of whom had partial epilepsy and had received CBZ as the only drug since the beginning of therapy. Fifty-three healthy subjects served as controls. Serum concentrations of IgA and IgG were significantly higher in patients than in contro...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1980.tb01491.x
更新日期:1980-04-01 00:00:00
abstract::Anti-muscle-specific receptor tyrosine kinase (MuSK) antibody-positive myasthenia gravis (MG) patients show various responses to conventional immunosuppressive treatment and some patients are resistant to these therapies. We report a 50-year-old Japanese man with anti-MuSK antibody-positive MG, who showed no or poor r...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00877.x
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVES:Differential diagnosis between vascular parkinsonism (VP) and Parkinson's Disease (PD) is often difficult, due to the overlap in clinical presentation and the lack of specificity at neuroimaging. Aim of the study was to identify a possible reliable marker at SPECT imaging useful to distinguish the two condit...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01583.x
更新日期:2012-07-01 00:00:00
abstract::IgG subgroups (IgG1, IgG2, IgG3, IgG4) were determined by radioimmunoassay (RIA) in cerebrospinal fluid (CSF) of controls, multiple sclerosis (MS), infectious diseases (ID) and other neurological diseases (OND). The proportion of IgG1 in the total IgG subgroup concentration was significantly higher in the MS group com...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1979.tb02982.x
更新日期:1979-01-01 00:00:00
abstract::Three Alzheimer's disease patients with Pisa syndrome were presented. These patients were treated with cholinesterase inhibitors within a post-marketing surveillance study. The clinical and pharmacological histories of these patients suggest a relation between cholinesterase inhibitors and the pleurothotonus. The diff...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2005.00388.x
更新日期:2005-03-01 00:00:00
abstract::In the present review, we discuss observational and experimental data suggesting a protective effect from sun exposure and/or vitamin D in multiple sclerosis (MS). These data include geographic variations in MS occurrence, temporal trends, genetics, biobank, and questionnaire data. We look more closely at the differen...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.12432
更新日期:2015-01-01 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::In order to approach the mechanism of chronic or relapsing course in human chronic inflammatory demyelinating polyradiculoneuropathy, we established a chronic model of experimental allergic neuritis (EAN) in juvenile guinea pigs, and investigated the underlying cellular immune phenomenon in comparison with acute EAN i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb03214.x
更新日期:1985-05-01 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::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::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: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::16 boys with Duchenne muscular dystrophy (DMD) were treated with sodium selenite and vitamin E for one year. One group of patients (10 boys) was examined using a battery of tests to assess muscular strength and function and cardiopulmonary function, and by CT scanning of 2 muscle groups over the 4 years prior to treat...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03681.x
更新日期:1988-11-01 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::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