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 from this neurologic disease. The uronic acid excretion was found to be increased in the affected family members exclusively, whereas the excretion of the unaffected members were found within the normal limits characterized in this investigation. The urinary glucosaminoglycans could be separated into 5 fractions by electrophoresis. One or two of these fractions were increased in the urines of the three affected family members, the clinically most affected member showing the most abnormal electrophoretic results. An abnormal electrophoretic distribution of fractions was also found in the urines of 5 other members, clinically not affected. Only the maternal part of the family (mother and maternal grandmother) was shown to have a normal electrophoretic distribution of urinary glucosaminoglycans. The implication of these electrophoretic differences in the paternal and maternal family on the conditions for the development of the disease is discussed. The two fractions in question (designated fraction-0.65 and fraction-0.71) have until now been regarded as glycoproteins, but the present results show that they are true glucosaminoglycans (acid mucopolysaccharides), probably of low sulphate content.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Poulsen JHdoi
10.1111/j.1600-0404.1975.tb05776.xsubject
Has Abstractpub_date
1975-09-01 00:00:00pages
216-30issue
3eissn
0001-6314issn
1600-0404journal_volume
52pub_type
杂志文章abstract:OBJECTIVE:To investigate dopamine reuptake sites (dopamine transporter) in the caudate nucleus and putamen in narcolepsy. PATIENTS AND METHODS:Ten patients with narcolepsy and 15 controls were studied with positron emission tomography. A cocaine analogue [11C]-CFT was used as a radioligand. RESULTS:The uptake of[11C]...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00175.x
更新日期:2004-01-01 00:00:00
abstract::The prevalence of probable multiple sclerosis (MS) in Caltanissetta city, Sicily, is at least 51 per 100,000. If possible multiple sclerosis patients are included, it is 54 per 100,000. This value is similar to that found in other cities in Sicily: Enna, Monreale and Agrigento. The high prevalence of multiple sclerosi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03243.x
更新日期:1986-01-01 00:00:00
abstract::In 100 MS patients, BAEP and tibial SEP abnormality rates increased significantly with disease duration and clinical disability. VEP correlated non-linearly with disease duration, and median nerve SEP correlated with disability. In multifactorial analysis, however, BAEP correlated significantly only with clinical brai...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb04491.x
更新日期:1990-09-01 00:00:00
abstract:OBJECTIVES:To explore (1) effects of test and subject variables in determining euphoric and dysphoric responses during unilateral amobarbital anesthesia and (2) which cerebral areas contribute to the emotional responses. METHOD:Incidence of euphoric and dysphoric reactions during left- and right-sided amobarbital anes...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00329.x
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVES:To report a peculiar observation of a patient who developed a psychomotor inhibition state after a rapid cessation of lamotrigine (LTG). RESULTS:This man was referred to us at the age of 26 years for presurgical evaluation. His treatment [valproate (VPA), 1200 mg/day and LTG, 200 mg/day] was quickly decreas...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.1c220.x
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVES:To present clinical features at diagnosis for a large nationwide incident cohort of multiple sclerosis (MS) among those serving in the US military during the Gulf War era (GWE). MATERIALS & METHODS:Medical records and databases from the Department of Veterans Affairs (VA) for cases of MS with onset in or af...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12810
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVES:Comorbidities of idiopathic normal pressure hydrocephalus (iNPH), such as Alzheimer's disease (AD) and Parkinson's spectrum (PS) disorder, can affect the long-term prognosis of cerebrospinal fluid (CSF) shunting. Therefore, it is important to be able to predict comorbidities in the early stage of the disease...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13306
更新日期:2020-12-01 00:00:00
abstract::Parkinson's disease (PD) surveys and death-record studies in European populations were reviewed. Particular attention was given to methodological aspects. Two sets of quality criteria were used. Four door-to-door surveys revealed underdiagnosis of prevalent idiopathic parkinsonism ranging from 30% to 71%. Quality surv...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析
doi:10.1111/j.1600-0404.1991.tb04969.x
更新日期:1991-10-01 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::The prescriptions of antiepileptic drugs in the years 1985 and 1986 were used to identify all possible cases of epilepsy in a population of about 50,000 people. The general practitioners of the study area filled out a questionnaire for each user of antiepileptic drugs registered as a patient of theirs. This informatio...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb03991.x
更新日期:1992-01-01 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::Twenty-three consecutive patients with hemifacial spasm were studied. Magnetic resonance imaging angiography of the brain was performed in 20 patients and 15 controls. The angiograms were evaluated by two independent observers and blinded for side-location of the spasm. Contact between an artery from the vertebrobasil...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb00167.x
更新日期:1996-01-01 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:OBJECTIVES:"Epileptic dementia" is reported in adults with childhood-onset refractory epilepsy. Cognitive deterioration can also occur in a "second-hit model". MATERIALS AND METHODS:We studied the clinical and neuropsychological characteristics of patients with cognitive deterioration (≥1 SD discrepancy between curren...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12700
更新日期:2017-07-01 00:00:00
abstract::We report a case of acute Wernicke encephalopathy (WE) in which apparent diffusion coefficient maps showed areas of increased diffusion in the bilateral medial thalami that corresponded to the hyperintense lesions on T2-weighted imaging. The hyperintense lesions on T2-weighted imaging disappeared with full recovery fr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.00098.x
更新日期:2001-09-01 00:00:00
abstract:BACKGROUND:Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess. OBJECTIVE:To estimate the risk of cerebral abs...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12167
更新日期:2014-03-01 00:00:00
abstract::The clinical features in 268 patients with diffuse cerebral atrophy of initially unknown origin have been analysed. Pneumoencephalography showed supratentorial ventricular atrophy in 87 per cent (cortical in 71 per cent), and brain stem and/or cerebellar atrophy in 17 per cent of the patients. Epileptic seizures, dizz...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1975.tb01372.x
更新日期:1975-04-01 00:00:00
abstract:OBJECTIVES:The differential diagnosis of patients with idiopathic parkinsonism is difficult, especially early in the course of the disease. External anal sphincter electromyography (EAS-EMG) has been reported to be of value in the differential diagnosis between Parkinson's disease (PD) and multiple system atrophy (MSA)...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01633.x
更新日期:2012-10-01 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::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::Muscle cramps are involuntary, painful, sudden contractions of the skeletal muscles. They are present in normal subjects under certain conditions (during a strong voluntary contraction, sleep, sports, pregnancy) and in several pathologies such as myopathies, neuropathies, motoneuron diseases, metabolic disorders, hydr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1034/j.1600-0404.2003.01289.x
更新日期:2003-03-01 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:OBJECTIVES:The aim of this study was to re-evaluate the clinical features of stroke in children, their outcome and the place of the different mechanisms, in the light of CT-scan and magnetic resonance imaging. METHODS:A 10-year review of the Dijon Childhood Neurology Clinic experience (1985-1995) identified 54 patient...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00306.x
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:To study the relationship between cerebral hemodynamics and clinical performance in normal pressure hydrocephalus (NPH), before and after surgery. MATERIAL AND METHODS:Ten patients were studied prospectively before and 3 months after shunt surgery by means of transcranial Doppler (TCD). Clinical performance ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.01329.x
更新日期:2002-09-01 00:00:00
abstract::Three patients with wasting confined to a single lower limb are reported. The characteristic features were: sporadic occurrence, insidious onset with slow progression and in 2 cases arrested course for at least 4 years, wasting out of proportion with disability, absence of sensory, pyramidal tract or bulbar signs. CK,...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb06035.x
更新日期:1992-06-01 00:00:00
abstract:OBJECTIVES:The LRRK2-G2019S mutation is the most common cause of Parkinson's disease (PD) in North Africa. G2019S-PD has been described as similar to idiopathic with minor clinical differences. The aim of this study was to determine the G2019S-related phenotype and to investigate gender and gene dosage effects on clini...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12996
更新日期:2018-11-01 00:00:00
abstract::Eleven patients with presenile Alzheimer type dementia (ATD) were treated with N-terminal ACTH fragments for 14 days. No change in cognitive functions was observed during the treatment. A significant increase in CSF beta-endorphin (beta-EP) levels was found, while ACTH and beta-lipoprotein remain unaffected. The possi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03636.x
更新日期:1988-08-01 00:00:00
abstract::The production of oxygen-free radicals and their subsequent peroxidative action on membrane unsaturated fatty acids could be enhanced after subarachnoid hemorrhage. High-dose methylprednisolone (30 mg/Kg i.v.) treatment can antagonize acute SAH-induced brain hypoperfusion and protect the ultrastructural integrity of e...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01617.x
更新日期:1990-10-01 00:00:00
abstract:OBJECTIVES:Little is known about the frequency of abnormal visually evoked potentials (VEPs) in patients with respiratory chain disorders (RCDs). We thus wanted to investigate the frequency of abnormal VEPs in RCDs, how often VEPs are abnormal despite normal visual acuity, and which of the VEP variables are most often ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.00167.x
更新日期:2001-07-01 00:00:00
abstract:BACKGROUND:Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder of the central nervous system (CNS). Interleukin (IL)-6 and IL-17A may play important roles in the pathogenesis of this disease. High-mobility group box protein 1 (HMGB1), a small but highly conserved ubiquitous protein, is rec...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12850
更新日期:2018-02-01 00:00:00