Abstract:
OBJECTIVES:We describe 2 patients with epilepsy as an early manifestation of late onset metachromatic leukodystrophy (MLD). METHODS AND RESULTS:The first patient presented with epileptic seizures at the age of 34 years while neurological and cognitive abnormalities appeared later. MRI findings were compatible with leukodystrophy and low levels of arylsulphatase-A activity confirmed MLD. The second patient developed epileptic seizures and behavioral disturbances at the age of 19 years. She remained stable and seizure free for 8 years. Afterwards she developed uncontrolled epileptic seizures and status epilepticus as well as neurological and cognitive impairment. Leukodystrophy was diagnosed by MRI findings and low levels of arylsulphatase-A activity were compatible with MLD. CONCLUSION:Our 2 cases postulate that epileptic seizures may be an early and prominent manifestation of late onset MLD.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Bostantjopoulou S,Katsarou Z,Michelakaki H,Kazis Adoi
10.1034/j.1600-0404.2000.102003192.xsubject
Has Abstractpub_date
2000-09-01 00:00:00pages
192-5issue
3eissn
0001-6314issn
1600-0404journal_volume
102pub_type
杂志文章abstract::Marstock thermotesting evaluates A-delta- and C-fiber functions. To optimize this method, intraindividual variations of vasodilatation, blood flow and sympathetic activity probably biasing thermotest results were imitated by exogenous stimuli which strongly exaggerated these intraindividual variations. In 20 healthy s...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb08048.x
更新日期:1992-07-01 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::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::Gamma-aminobutyric acid (GABA) is the most important inhibitory transmitter, quantitatively, in the CNS. Evidence exists that decreased GABAergic neurotransmission may play a role in some forms of epilepsy. Consequently, manipulating the GABA system may be a therapeutic possibility in the treatment of this disease. In...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章,评审
doi:10.1111/j.1600-0404.1988.tb03655.x
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVES:Our purpose was to identify the incidence and significance of markers of systemic connective tissue abnormalities (CTA) in patients with saccular intracranial aneurysms (SIA). MATERIALS AND METHODS:This prospective case-control study included 199 consecutive patients with SIA (103 women and 96 men, mean age...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12088
更新日期:2013-08-01 00:00:00
abstract::The alteration of amino acids in cerebrospinal fluids (CSF) from 14 cases of Parkinson's disease, five cases of cerebellar degeneration and five cases of headache (control) was studied using high performance liquid chromatography. In patients with Parkinson's disease, it was found that the CSF level of GABA showed a s...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03249.x
更新日期:1986-02-01 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::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::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:BACKGROUND:Far from being uniform, Huntington's disease (HD)'s phenotype encompasses a large variety of motor and non-motor symptoms which occur in various combinations in individual patients. AIM:To describe an unusual association between restless legs syndrome (RLS) and HD. METHODS AND RESULTS:We report a patient w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2008.01091.x
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVES:To assess the effectiveness and safety/tolerability of eslicarbazepine acetate (ESL) in patients included in the Euro-Esli study who had focal seizures associated with post-stroke epilepsy (PSE). MATERIALS AND METHODS:Euro-Esli was a pooled analysis of 14 European clinical practice studies. Effectiveness as...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13323
更新日期:2020-12-01 00:00:00
abstract::The results of intra-operative cortical EEG recordings (ECoG) were assessed in 30 patients with medically refractory complex partial seizures submitted to temporal lobectomy. Interictal spiking was most frequently recorded from mesial temporal lobe structures (amygdaloid-hippocampal region) and from the temporal neoco...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04651.x
更新日期:1991-02-01 00:00:00
abstract::Variants in the EIF4G1 gene have been recently identified to be responsible for autosomal dominant PD (PARK18), but its role in the PD-related neurodegeneration is unclear. Several EIF4G1 mutation/variants were found to be associated with PD, and functional studies have suggested that these variants may impair the abi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.12397
更新日期:2015-08-01 00:00:00
abstract::We investigated the types of syndrome, location, size and presumed causes of 72 patients with acute capsular lacunar infarction. Clinical syndromes were classified into pure motor hemiparesis (PM), sensorimotor stroke (SM) and ataxic hemiparesis (AH). Lesion sizes of AH were significantly smaller than those of PM (p <...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04233.x
更新日期:1993-10-01 00:00:00
abstract:MATERIALS AND METHODS:In a prospective study we evaluated patients with first generalized tonic-clonic seizure (GTCS) (n = 16, age: 31 +/- 11 years, 8 women) and patients with vaso-vagal syncope (VVS) (n = 17, age: 32 +/- 13 years, 8 women), diagnosed on the basis of past history and clinical presentation who had serum...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00084.x
更新日期:1997-03-01 00:00:00
abstract:OBJECTIVE:To investigate the prevalence of G88C, G209A and any other mutation(s) in exons 3 and 4 of the alpha-synuclein gene in Indian patients with Parkinson's disease (PD). METHODS:A total of 169 PD patients comprising 18 familial, 3 juvenile, 48 early onset and 100 sporadic cases were included in this study. Genom...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.103002120.x
更新日期:2001-02-01 00:00:00
abstract::The data for 125 patients with Spielmeyer-Sjögren's disease is presented. Antioxidant therapy was given to 49. 27 received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. T...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb03178.x
更新日期:1985-02-01 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::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::IgG and IgM concentrations in tears of multiple sclerosis patients (n = 38) are increased compared to normal controls (n = 23). The occurrence of oligoclonal tear IgG bands (7.9%)--as determined by immunoblotting--did not differ between groups. Our findings suggest an altered reactivity of the secretory immune system ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04034.x
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:Cystatin C (CysC) is associated with many neurodegenerative disorders and autoimmune diseases, but its relationship with anti-N-Methyl-D-aspartate receptor (anti-NMDAR) encephalitis is unknown. METHODS:Serum levels of CysC were determined in 66 patients with anti-NMDAR encephalitis and 115 healthy controls....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12894
更新日期:2018-05-01 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:OBJECTIVES:To report three cases of premature death in juvenile myoclonic epilepsy (JME), a benign form of idiopathic generalized epilepsy (IGE) in which no case of epilepsy-related death has been reported. MATERIAL AND METHODS:We retrospectively analyzed all medical records of JME patients first referred to two epile...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.00003.x
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVE:There is a paucity of regional cerebral blood flow studies in Japanese encephalitis (JE). In this communication we report clinical, radiological and single photon emission computed tomography findings in subacute and chronic JE patients. MATERIAL AND METHODS:Eight JE patients whose ages ranged between 10 and...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb07349.x
更新日期:1999-04-01 00:00:00
abstract::The purpose of this study was to test the improved sensitivity of P3 abnormality in the detection of dementia using a variety of auditory stimuli. Improved detection was obtained using auditory stimuli that differed in their cognitive attributes and by using several P3 measures. These measures included P3 latencies an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00474.x
更新日期:1995-07-01 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::A Chinese family with at least 3 members having the typical clinical picture of type I familial amyloid polyneuropathy is presented. The pathological features, including the immunohistochemical typing of the amyloid deposits, are described and the literature is briefly reviewed. ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03806.x
更新日期:1989-05-01 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::A CSF Poly(C)-avid ribonuclease (RNase) activity was determined in serum and CSF of 11 controls and 75 neurological patients (34 multiple sclerosis (MS), 18 infectious processes and 23 other neurological diseases (OND]. In controls, the blood-CSF ratio of RNase activity is low. This fact and the absence of correlation...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1984-07-01 00:00:00
abstract::Transitional progressive multiple sclerosis (MS) is quite an unusual form of presentation and course of the disease. A case with this progressive form is presented and brain MRI and MTI findings are discussed in relation to the possible insight they may provide for understanding the mechanisms that determine progressi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb01036.x
更新日期:1995-08-01 00:00:00