Abstract：
:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.
journal_name
Acta Neurol Belgjournal_title
Acta neurologica Belgicaauthors
Pavlovic AM,Dobricic V,Semnic R,Lackovic V,Novakovic I,Bajcetic M,Sternic Ndoi
10.1007/s13760-012-0174-2subject
Has Abstractpub_date
2013-09-01 00:00:00pages
299-302issue
3eissn
0300-9009issn
2240-2993journal_volume
113pub_type
杂志文章abstract：:We performed a retrospective study of 62 patients with syringomyelia. Most noteworthy among the clinical features in our patient population are the following: segmental sensory disturbances are usually less restrictive than the classical thermoanalgesia, pain is a presenting symptom in almost 50% of cases, and skeleta...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：:The case of a 57-year-old woman is described with a two months history of proximal muscle weakness and pain, marked hypotrophy and brisk reflexes. Clinical investigation demonstrated normal serum CK, myopathic EMG and osteomalacia. Muscle biopsy showed type II fibre atrophy and mitochondrial alterations without inclus...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1982-03-01 00:00:00
abstract：:Advances in the treatment of MG have allowed most patients to effectively treat their disorder with oral medications. In parallel, non-adherence to medication treatment regimens is a worldwide health problem. Other chronic neurological disorders have already been associated with low adherence to treatment. However, th...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-019-01209-0
更新日期：2020-02-01 00:00:00
abstract：:Optical coherence tomography (OCT) has been suggested as a method for detection of retinal alterations in neurodegenerative diseases. The usefulness of OCT as a diagnostic tool to differentiate Parkinson's disease (PD) from other tremor diseases, remains unknown. We aimed to evaluate morphological changes of the retin...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-019-01228-x
更新日期：2020-02-01 00:00:00
abstract：:Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) is involved in the pathogenesis of central nervous system (CNS) demyelination disorders. We aimed to explore the spectrum of MOG-Ab-associated diseases in eastern India. A single-center, prospective observational study was done over a period of 2 years in a tertiar...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01356-9
更新日期：2020-04-20 00:00:00
abstract：:CADASIL is an autosomal dominant inherited arteriopathy caused by a point mutation in the Notch3 gene. Classically, it is characterised by recurrent ischemic strokes, often resulting in mental decline. Intracerebral haemorrhages in CADASIL have rarely been reported. We describe a young male with a genetically proven C...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2006-12-01 00:00:00
abstract：:The ictal bradycardia syndrome is an uncommon diagnosis in which bradycardia is accompanied by simultaneous epileptic discharges in the EEG. We describe a patient who was referred to the emergency ward because of syncope. Ictal semeiology and EEG-EG findings are discussed and compared with those published in the liter...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2007-03-01 00:00:00
abstract：:Neurosarcoidosis is a diagnostic challenge, especially in the absence of systemic involvement, even when cerebral biopsies show noncaseating granulomas. We report a patient with a pineal germinoma associated with a extensive peri- and intra- tumoural granulomatous reaction, who was first diagnosed as possible neurosar...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2009-06-01 00:00:00
abstract：:Multiple sclerosis (MS) is a neuro-immunological demyelinating disease. From the immunological aspects, it is well accepted that T cells play a pivotal role in the etiology of the disease. T helper (Th) 1 and Th17 cells are thought to be the main pathogenic T cells in the pathogenesis of MS and are known as effector T...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,meta分析
doi：10.1007/s13760-018-1028-3
更新日期：2019-03-01 00:00:00
abstract：:We investigated the ophthalmologic manifestations and factors that influence outcomes in patients with myasthenia gravis (MG). We retrospectively analyzed the prevalence of neuro-ophthalmologic findings and clinical and outcome measures of 100 consecutive patients (53 males, 47 females), aged 55.7 ± 17.5 (range 15-85)...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01556-3
更新日期：2021-01-04 00:00:00
abstract：:Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic process that typically occurs in the setting of immune dysregulation. In contrast to the characteristic pattern involving parieto-occipital and posterior frontal regions, predominant involvement of the infratentorial brain occurs in a minority of PRES...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-015-0431-2
更新日期：2015-12-01 00:00:00
abstract：:Eight cases of acute or subacute hypercalcemic encephalopathy are described. The symptoms comprise digestive disorders, signs of dehydration and neuropsychological anomalies. Among the latter, it is stressed that impairments of upright stance and locomotion are present in all cases. The clinical picture is not charact...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1977-05-01 00:00:00
abstract：BACKGROUND:In carotid artery dissections, local and ischemic manifestations usually occur within days or weeks. In some cases, persistent extracranial aneurysms cause thromboembolic complications even years after the initial event. The management of these aneurysms is still controversial. CASE DESCRIPTION:We report th...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2003-09-01 00:00:00
abstract：:Many studies have reported that repetitive transcranial magnetic stimulation (rTMS) is beneficial for post-stroke patients with upper limb hemiparesis. It was reported that application of rTMS during sleep could possibly strengthen neural plasticity. The purpose of this study was to investigate the relationship betwee...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-018-0957-1
更新日期：2019-06-01 00:00:00
abstract：:Visual disorder is one of the non-motor symptoms found in Parkinson's disease (PD). It can be easily identified in the early stages even before the spread of pathological conditions to the brain parts. Studies have revealed that loss of dopamine (DA) cells in retinal layers is a prime cause for both retinal disturbanc...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：10.1007/s13760-020-01274-w
更新日期：2020-04-01 00:00:00
abstract：:Evidence suggests that symptoms of migraine are related to the involvement of the autonomic nervous system. Data on atrial conduction system are limited in migraineurs. We aimed to assess atrial electromechanical delay using tissue Doppler imaging (TDI) in patients with migraine. Forty-five migraine patients and age- ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-013-0273-8
更新日期：2014-12-01 00:00:00
abstract：:Catatonia was first described by Kahlbaum in 1874. Ever since, the concept of catatonia has been the focus of debate, a major point of discussion being its nosological status. The question rises whether it is to be considered a syndrome with a wide variety of causes and clinical signs or a distinct clinical entity. Si...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2007-06-01 00:00:00
abstract：:The authors study the characteristics of a group of 23 patients for whom an initial tentative diagnosis of Hakim-Adams syndrome (H-A syndrome) was eventually rejected. On account of several factors distinguishing these patients from the true H-A group, the authors propose using the term "pseudo Hakim-Adams syndrome". ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1982-07-01 00:00:00
abstract：:The authors distinguish between two evolutive forms of dementia, one being chracterized by prpgressive deterioration (for instance in the course of arteriopathic, degenerative or infections processes) and the other in which dementia sets in after the clinical picture has improved (for instance after meningeal haemorrh...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1976-07-01 00:00:00
abstract：:Myasthenia gravis (MG) is one of the curable neurologic disorders. Various pharmacological therapies are administered for these patients and a thymectomy plays an important role in the therapy of myasthenia gravis, which develops a permanent or relative remission. We investigated the efficacy of intravenous immunoglob...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,随机对照试验
doi：10.1007/s13760-016-0689-z
更新日期：2017-03-01 00:00:00
abstract：:The concept of a group of headaches whose pathophysiological focus revolves around the trigeminal-autonomic reflex fills a useful gap in characterising a number of primary headache syndromes. Broadly, these syndromes involve activation of trigeminovascular nociceptive pathways with reflex cranial autonomic activation....
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：2001-03-01 00:00:00
abstract：:Short-term cyclophosphamide pulse therapy was administered to five patients with idiopathic inflammatory myopathies (IIM) which were refractory to corticosteroids and, in two cases, to other aggressive therapies. Both disease remission and a reduction in corticosteroid dosage were obtained in four patients. Three of t...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1992-01-01 00:00:00
abstract：:Cluster headache (CH) is among the most painful headache disorders. There is still no unifying pathophysiological hypothesis to explain the trigeminal distribution, the circadian periodicity and the autonomic symptoms of the syndrome. We report the case of a patient with worsening of CH following administration of pra...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2010-09-01 00:00:00
abstract：:A 47-year-old female developed proximal limb weakness after hysterectomy for uterine fibromatosis. Muscle strength slowly improved, but relapse occurred at age 52. She presented with progressive gait difficulty, proximal limb weakness, and painful calves. Family history was not contributory. Cranial nerves, deep tendo...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2000-03-01 00:00:00
abstract：:Guillain-Barré Syndrome (GBS) is best viewed as a clinical syndrome which can have at least two clinical substrates: the commonest is an acquired demyelinating polyradiculoneuropathy and the other is an acute motor axonal neuropathy. An acute acquired neuropathy can also sometimes cause the Miller Fisher syndrome of o...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1994-01-01 00:00:00
abstract：:Five to 10 mul of 196 cerebrospinal fluid samples were subjected to agar gel electrophoresis without previous concentration. No "degenerative" pattern was found to be correlated with any clinical diagnosis or group of diagnoses, Repeated freezing and thawing appears to have different effects on the different fractions...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1974-11-01 00:00:00
abstract：:Proposals about the regulations and medical criteria concerning epilepsy and driving, originally drawn up by the Commission on Epilepsy and Risk from the Belgian League against Epilepsy were discussed and amended by a panel of representatives of several scientific societies and of all Belgian universities in order to ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2004-06-01 00:00:00
abstract：:Early onset dementia (EOD) is a major diagnostic challenge as it often presents with atypical features and may be attributed to treatable diseases. Primary degenerative dementias (Alzheimer's disease-AD, frontotemporal lobar degeneration-FTLD, Lewy body dementia-LBD), although traditionally considered to affect older ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-014-0310-2
更新日期：2015-03-01 00:00:00
abstract：:For a long-term period (25-30 years) the author sums up the results obtained by cervical discectomy through a ventral route followed by interbody arthrodisis. In the disc diseases, the radicular syndromes gave excellent results, the medullar syndromes good results. In the cervical injuries, the results were always goo...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1987-03-01 00:00:00
abstract：:Despite intensive research efforts, the cause of the muscular dystrophies has remained elusive for many decades. In the late 1980s, major advances in molecular genetics have led to the discovery of the dystrophin gene and its protein product, dystrophin. Mutations in the dystrophin gene result in dystrophin deficiency...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1995-01-01 00:00:00
