Abstract:
OBJECTIVES:To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR). MATERIALS AND METHODS:Six patients from five families underwent neurological examination and magnetic resonance imaging (MRI) of the brain. Blood samples from the patients were screened for serum carbohydrate-deficient transferrin (s-CDT; disialotransferrin). The very-low-density lipoprotein receptor (VLDLR) gene was sequenced. RESULTS:Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature. Mental retardation and strabismus, characteristic for DES-VLDLR, were inconsistent among our patients. None of our patients had VLDLR mutations or MRI findings characteristic of DES-VLDLR. MRI findings were variable from a normal cerebellum to marked cerebellar hypoplasia or atrophy and signal intensity changes. One patient was diagnosed with congenital disorder of glycosylation type 1a (CDG-1a). CONCLUSIONS:DES was originally coined on mainly clinical grounds before MRI and specific genetic tests were available, both of which should be used to arrive at an appropriate diagnosis.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Melberg A,Orlén H,Raininko R,Entesarian M,Dahlqvist J,Gustavson KH,Dahl Ndoi
10.1111/j.1600-0404.2010.01335.xsubject
Has Abstractpub_date
2011-01-01 00:00:00pages
28-33issue
1eissn
0001-6314issn
1600-0404pii
ANE1335journal_volume
123pub_type
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1977.tb01414.x
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abstract:OBJECTIVES:As part of a door-to-door survey of neurologic diseases, we investigated the prevalence of lumbosacral radiculopathy (LR) in two Sicilian municipalities (N = 14,540, as of November 1, 1987). MATERIAL & METHODS:During phase 1, we administered a brief screening instrument to subjects in the study population. ...
journal_title:Acta neurologica Scandinavica
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doi:10.1111/j.1600-0404.1996.tb00027.x
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abstract::Acute disseminated encephalomyelitis (ADEM) is an acute monophasic inflammatory and demyelinating disease of the central nervous system (CNS) occurring days to weeks after a virus infection or vaccination. Nephropathia epidemica (NE) is a haemorrhagic fever with renal syndrome caused by Puumala virus, with endemic reg...
journal_title:Acta neurologica Scandinavica
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doi:10.1034/j.1600-0404.2002.1c168.x
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abstract:OBJECTIVES:Although leukoaraosis (LA) is a common CT findings, its pathogenesis remains debated: if small-artery pathology may explain in some cases white matter changes, many other factors, such as hemodynamic perturbations, might also lead to LA. To test these hypothesis, we determined the types of cerebrovascular ri...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb07044.x
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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
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doi:10.1111/ane.12518
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doi:10.1111/j.1600-0404.2006.00725.x
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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
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doi:10.1034/j.1600-0404.2002.01329.x
更新日期:2002-09-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01521.x
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abstract::Serum lipids and the cholesterol concentration in the high density lipoprotein (HDL) fraction were measured in epileptic patients taking either carbamazepine or phenytoin as single drug treatment. There was a significant increase in HDL-cholesterol levels in patients taking both phenytoin and carbamazepine. Serum tota...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb03067.x
更新日期:1982-02-01 00:00:00
abstract:OBJECTIVES:Spinocerebellar ataxia type 7 is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and retinal degeneration, described in various population groups in the literature. This is the first description from South Africa. The objective was to document the clinical and gen...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.101003177.x
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVES:Until now, the significance of plasma exchange (PE) as a treatment for steroid-unresponsive optic neuritis (ON) is still unclear because placebo-controlled and larger studies are missing. We report our experience with 23 patients treated by PE due to steroid-unresponsive ON. MATERIALS AND METHODS:Patients w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01612.x
更新日期:2012-08-01 00:00:00
abstract::It has been suggested that nitric oxide could be implicated in the neuronal degeneration of substantia nigra compacta in patients with Parkinson's disease. Recently, it has been reported decreased CSF nitrate levels (oxidation product that provides an indirect estimation of nitric oxide) in Parkinson's disease patient...
journal_title:Acta neurologica Scandinavica
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doi:10.1111/j.1600-0404.1996.tb00186.x
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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...
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doi:10.1111/ane.12375
更新日期:2015-08-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12174
更新日期:2014-05-01 00:00:00
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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::Treatment with intraventricular pentosan polysulphate (PPS) might be beneficial in patients with Creutzfeldt-Jakob disease. We report a 68-year-old woman with sporadic Creutzfeldt-Jakob disease who received continuous intraventricular PPS infusion (1-120 microg/kg/day) for 17 months starting 10 months after the onset ...
journal_title:Acta neurologica Scandinavica
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doi:10.1111/j.1600-0404.2009.01272.x
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
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更新日期:2011-04-01 00:00:00
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journal_title:Acta neurologica Scandinavica
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doi:10.1111/j.1600-0404.1989.tb03741.x
更新日期:1989-03-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03300.x
更新日期:1986-04-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00586.x
更新日期:2006-05-01 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:INTRODUCTION:Cognitive impairment is a common and disabling consequence of stroke. Its prevalence, the best way to screen for it in the acute setting, and its relation with premorbid status have not been thoroughly clarified. MATERIALS AND METHODS:Ischemic and hemorrhagic stroke patients admitted to our stroke unit un...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13319
更新日期:2020-10-01 00:00:00
abstract::Two cases of increased intracranial pressure associated with lumbar intraspinal tumours are reported. On the basis of protein investigations and constant flow infusion manometric tests, the pathophysiology of the increased intracranial pressure is discussed. It is demonstrated that protein macromolecules leak from the...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1977-09-01 00:00:00
abstract::A prospective electrophysiological study of phrenic nerve was performed in 59 subjects undergoing open-heart surgery. The nerve was stimulated percutaneously at the neck and the diaphragmatic response was recorded with surface electrodes placed over the 8th intercostal space. The latency, amplitude, duration and area ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb07000.x
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To compare the mortality rate in Parkinson's disease (PD) with a control group without PD, and to assess the relationship between mortality and features of PD. MATERIAL AND METHODS:Ninety PD patients and 50 controls, mortality ascertained at 11 years follow-up. RESULTS:The hazard ratio (HR) for mortality in...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00292.x
更新日期:2004-08-01 00:00:00
abstract::The main metabolites of the neurotransmitters noradrenaline, dopamine, and serotonin, methoxy-hydroxyphenylglycol (MHPG), homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5HIAA) respectively, were estimated by HPLC with electrochemical detection in CSF samples from 24 patients in coma after head injury, 1 to 1...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05064.x
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVES:To examine the clinical characteristics of autoimmune encephalitis associated with the glutamate decarboxylase 65 (GAD 65) antibody. MATERIALS AND METHODS:Medical records of all patients that diagnosed with GAD 65 antibody-associated encephalitis were retrospectively analyzed. Data regarding demographics an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13281
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Subcutaneous immunoglobulin (SCIG) is effective treatment of chronic inflammatory demyelinating polyneuropathy (CIDP). Quality of life (QoL) increases following switch from intravenous administration to SCIG, but its correlation with clinical functioning is sparsely studied. AIMS OF THE STUDY:The aim of thi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13322
更新日期:2020-12-01 00:00:00