Abstract:
:Magnetic resonance imaging (MRI) has enabled ante mortem diagnosis of Hallervorden Spatz disease (HSD). Childhood-onset cases are the most common type and usually present with progressive dystonia and dementia. The duration of illness is 15 to 20 years, leading to death. Presentation in adulthood and infancy have also been reported, however again the progression is usually inexorable. We present a 30-year-old woman who developed cognitive and motor developmental delay from the age of 8 months. There was further cognitive decline in her late teenage years with seizures and then more recent motor decline with dystonia. The imaging appearance was of iron deposition in the globus pallidus and substantia nigra leading to a diagnosis of HSD. The increased availability of MRI has allowed more cases of HSD to be diagnosed in life but as our case illustrates classification of the disease may need to be further examined.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Hickman SJ,Ward NS,Surtees RA,Stevens JM,Farmer SFdoi
10.1034/j.1600-0404.2001.103003201.xsubject
Has Abstractpub_date
2001-03-01 00:00:00pages
201-3issue
3eissn
0001-6314issn
1600-0404pii
ane303journal_volume
103pub_type
杂志文章abstract:OBJECTIVE:To compare the sensitivity and specificity of isoelectric focusing (IEF) with immunofixation, agarose gel electrophoresis (AGE) and the IgG index in detecting intrathecally synthesized IgG in multiple sclerosis (MS) and in other nervous system disorders. MATERIALS AND METHODS:Cerebrospinal fluid (CSF) and se...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102005322.x
更新日期:2000-11-01 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:BACKGROUND AND PURPOSE:Cerebral infarcts occur more frequently along the middle (MCA) than the anterior cerebral artery (ACA) territory. The reason(s) for this difference remains speculative. The objective of this study was to investigate the distribution of cerebral microemboli as detected by transcranial Doppler ultr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.101002122.x
更新日期:2000-02-01 00:00:00
abstract:BACKGROUND:Previous studies have shown that white matter lesions (WMLs) is an important risk factor for cognitive impairment, but the underlying mechanisms have not been clarified. OBJECTIVE:We tested the hypothesis that the cognitive impairments associated with periventricular white matter hyperintensities (PWMHs) on...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12262
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVES:Therapy of acute relapses in multiple sclerosis with corticosteroids (CC) remains uncertain with respect to route, dosage and effectiveness. This makes the treatment of relapses a clinical field where 'shared decision-making (SDM)' could be of advantage for the patients. A prerequisite for SDM is the provisi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.2004.00284.x
更新日期:2004-07-01 00:00:00
abstract:BACKGROUND:Paraneoplastic neurological syndromes (PNS) are rare remote effect of cancer. The antibodies and tumors associated with PNS have been well described, but there are still many clinically suspected cases in which no tumor or antibody can be identified. This is the first report of PNS showing hot cross-bun sign...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12469
更新日期:2016-05-01 00:00:00
abstract::During the period 1935-1976, 200 cases of brain abscess were treated in the University Clinic of Neurosurgery, Rigshospitalet, Copenhagen. 119 patients survived. Out of 40 deaths during the follow-up period, 37 were unrelated to the previous brain abscess. 12 patients emigrated and were lost to follow-up. History and ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1983.tb03150.x
更新日期:1983-06-01 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:OBJECTIVE:Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 is an autosomal dominant spinocerebellar degeneration, for which there is no effective treatment. PATIENTS AND METHODS:This study involved the clinical response of lamotrigine (LTG) on six MJD patients with early truncal ataxia and the effect of LTG ...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.2005.00405.x
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVES:To measure clinical and immunological parameters in a patient with myasthenia gravis (MG) treated with antibodies against CD25 (basiliximab, Simulect). Patient and methods - Injections of basiliximab were given repeatedly together with cyclosporin A and corticosteroids for 9 months to a patient with severe M...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00919.x
更新日期:2008-03-01 00:00:00
abstract:BACKGROUND:Carotid intimal medial thickening (c-IMT) is an established surrogate marker for atherosclerosis. There have been sporadic reports about an increase of c-IMT on the left carotid artery among populations with a mean age of +/-50 years. OBJECTIVE:The purpose of this study was to evaluate whether there is a di...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00828.x
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVES:Interindividual variability in intestinal absorption and bioavailability might contribute to inadequate control of seizures under treatment with carbamazepine and phenytoin. We therefore correlated intestinal expression levels and genetics of CYP3A4, CYP2C9/19, MDR1 and MRP2 with dose requirement and plasma ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00761.x
更新日期:2007-04-01 00:00:00
abstract::A case of transient global amnesia has been neuropsychologically assessed during the attack. Global involvement of any memory modalities and far-reaching retrograde amnesia were found. Follow-up retesting, 1 week and 6 months later, showed persistence of mild verbal memory impairment. ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1981.tb00747.x
更新日期:1981-01-01 00:00:00
abstract:BACKGROUND:Some recent studies have found an association between foetal malformations in earlier antiepileptic drug (AED)-exposed pregnancies and an increased hazard of such malformations in subsequent pregnancies. We investigated this matter further, and also considered the possible role of spontaneous abortions in pr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12672
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVE:To selectively investigate postganglionic sympathetic cardiac neurons in patients with Parkinson's disease and autonomic failure. MATERIAL AND METHODS:Metaiodobenzylguanidine (MIBG) is a pharmacologically inactive analogue of noradrenaline, which is similarly metabolized in noradrenergic neurons. Therefore t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb05958.x
更新日期:1998-05-01 00:00:00
abstract::This is the first epidemiological study of myasthenia gravis (MG) in the area of Belgrade. During the survey period (1983 1992), 124 incidental cases of MG were observed, producing an average annual incidence rate of 7.1 per million population (women, 8.3; men, 5.8). Age and sex specific incidence rates for females de...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb00733.x
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVE:To explore the long-term effectiveness of rufinamide in managing Lennox-Gastaut Syndrome (LGS), other epileptic encephalopathies, and intractable focal epilepsies in adults and children in routine clinical practice. METHODS:A multicentre, retrospective chart review of patients prescribed adjunctive rufinamid...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究
doi:10.1111/ane.12572
更新日期:2017-01-01 00:00:00
abstract::The ability to transcode integers from ideographic to alphabetic script was assessed in patients with dementia of Alzheimer type. Eleven of 13 consecutive patients made characteristic errors of intrusion. We propose that this may be a simple bedside test for dementia. ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1990-02-01 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:We performed a systematic review and meta-analysis to evaluate the proposed association of restless legs syndrome (RLS) with cerebrovascular/cardiovascular outcomes. METHODS:We calculated the corresponding odds ratios on the prevalence of cerebrovascular/cardiovascular risk factors and standardized mean diff...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析,评审
doi:10.1111/ane.12848
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:To determine characteristics, clinical significance, frequency, and mimics of restless legs syndrome (RLS) in a cohort of Wilson's disease (WD, n = 42/f = 18), compared to healthy, matched controls. MATERIALS AND METHODS:Structured clinical interviews (patients and caregiving family members), repeated neurol...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12585
更新日期:2017-02-01 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:OBJECTIVE:To clarify the relationship between mitochondrial DNA (mtDNA) sequence variations and phenotypes in patients with A3243G mutation. MATERIALS AND METHODS:We studied whole mtDNA sequences in two families with A3243G mutation and characteristic clinical features. Two brothers in Family 1 had shown thiamine defi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.01172.x
更新日期:2002-08-01 00:00:00
abstract:BACKGROUND:For most major antiepileptic drugs, neuropsychological side effects have been reported. Healthy volunteer studies have found that both carbamazepine and valproate impair aspects of verbal memory. OBJECTIVE:The aim of this study was to assess the effects of carbamazepine and valproate on verbal memory, in a ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1600-0404.2010.01452.x
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVES:Perampanel is an antiepileptic drug (AED) approved for add-on treatment of focal seizures (with or without generalization) and primary generalized tonic-clonic (GTC) seizures. Our objective was to explore the effectiveness and tolerability of adjunctive perampanel in patients with drug-resistant myoclonic se...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究
doi:10.1111/ane.12931
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:Major neurological improvement (MNI) at 24 hours represents a marker of early recanalization in ischaemic stroke. Although low body temperature is considered neuroprotective in cerebral ischaemia, some studies have suggested that higher body temperature may promote clot lysis in the acute phase of ischaemic ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12184
更新日期:2014-05-01 00:00:00
abstract::A two-phase epidemiological study of essential tremor was carried out by investigating a rural population aged over 40 years in 2 municipalities in southwestern Finland. In the first phase, the subjects answered a questionnaire as to whether they had experienced tremor during the month preceding the inquiry. In the se...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb03129.x
更新日期:1982-07-01 00:00:00
abstract::The objective of this paper is to evaluate the accuracy of conventional diagnostic criteria for Parkinson's disease and give an overview of alternative causes to parkinsonian syndromes. We also propose a new approach to the clinical diagnosis of Parkinson's disease, which may improve the diagnostic accuracy. The avail...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.1994.tb01674.x
更新日期:1994-04-01 00:00:00
abstract:BACKGROUND:Both pregnancy and high vitamin D concentration seem to generate a protective environment against multiple sclerosis (MS) relapses. Longitudinal case-control analysis of vitamin D concentrations during pregnancy and lactation of MS mothers is lacking. AIMS OF THE STUDY:To examine serum 25-hydroxyvitamin-D3 ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12306
更新日期:2015-01-01 00:00:00
abstract::Bulbar dysfunction resulting from corticobulbar pathway or brainstem neuron degeneration is one of the most important clinical problems encountered in motor neuron disease (MND) and contributes to various respiratory complications which are major causes of morbidity and mortality. Chronic malnutrition as a consequence...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:
更新日期:2001-04-01 00:00:00