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, which constitutes the pathogenetic basis of Duchenne and Becker muscular dystrophy. This major breakthrough set the scene for the ongoing discovery of the molecular basis of the muscular dystrophies. Several muscular dystrophies are caused by mutations in specific genes, which lead to deficiency of structural proteins of the sarcolemma other than dystrophin and to enzymatic dysfunction. Other muscular dystrophies have been mapped to different chromosomal loci, and in most of them, the identification of the molecular defect is ongoing. The elucidation of the molecular basis of the muscular dystrophies has a major impact on the understanding of their pathogenetic mechanisms, their nosological classification, their diagnosis and prevention, and, for the first time, offers perspectives for the development of causal treatment strategies.
journal_name
Acta Neurol Belgjournal_title
Acta neurologica Belgicaauthors
Van den Bergh PY,Tomé FM,Fardeau Msubject
Has Abstractpub_date
1995-01-01 00:00:00pages
123-41issue
3eissn
0300-9009issn
2240-2993journal_volume
95pub_type
杂志文章,评审abstract：:Functional brain imaging studies, such as positron emission tomography and functional nuclear magnetic resonance imaging, are based on the regional increases in cerebral blood flow, glucose consumption and oxygen consumption that are associated with regional increases in neuronal activity. The cellular basis of the si...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：2002-12-01 00:00:00
abstract：:The objective of this study was to evaluate the tolerability and efficacy of lacosamide (LCM) in residential patients at our epilepsy centre. We assessed retrospectively 80 patients (mean age 36.2 years, range 18-63 years; 29 female) with intellectual disability (ID) and drug-resistant epilepsy using an industry-indep...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-019-01098-3
更新日期：2019-09-01 00:00:00
abstract：:Most of the brominated monoureide and bromide salt containing drugs are obtainable in Belgium without prescription. Apart from the regularly encountered suicidal attempts, these drugs can also, without the intention of the patient, cause bromism . We report two cases of patients recently admitted because of bromism af...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1984-03-01 00:00:00
abstract：:After a review of current concepts about post-traumatic mutism, the authors describe five patients with this unusual symptom. The study extends on a long follow-up period. Differential diagnosis and possible neurological and psychopathological factors are discussed. Analysis of their personal observations leads the au...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1979-09-01 00:00:00
abstract：:An acute atypical psychotic episode characterized by hallucinations and delusions suddenly developed in a 63-year-old right-handed male following an extensive right hemisphere infarction in the carotid artery distribution. While hallucinations were visual, tactile and auditory, delusions were associated with specific ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1987-05-01 00:00:00
abstract：:Psychiatric comorbidity in patients with headache contributes to poorer prognosis, chronification of disease, poor response to treatment, increased cost of treatment, and decreased quality of life. The purpose of the present study was to evaluate the depressive symptoms in adolescents with chronic and episodic migrain...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-012-0135-9
更新日期：2013-03-01 00:00:00
abstract：:We performed a systematic neurophysiological evaluation of newborns-infants newly diagnosed with congenital hypothyroidism and started on replacement therapy, in order to document the maturation of visual, auditory and somesthetic pathways and to evaluate the influence of treatment. Twenty-one patients (9 boys, 12 gir...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-014-0331-x
更新日期：2015-06-01 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：:The authors report the case of a 26 year old woman with acute anterior poliomyelitis contracted during the vaccination of her baby. Despite having been herself vaccinated in infancy she was not protected against the poliovirus. The clinical interest of this uncommon case is a severe paralytic state with definitive par...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1989-11-01 00:00:00
abstract：:A case of isolated cerebral vasculitis showing benign outcome is presented. Review of pertinent literature suggests that isolated benign arteritis of the CNS should be considered as a distinct entity, in a heterogeneous group of vasculitides. The common features of the syndrome are as follows: 1(0) benign evolution; 2...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1984-08-01 00:00:00
abstract：:We report an unusual case of probable progressive multifocal leukoencephalopathy (PML), who initially presented with a right-sided movement disorder, including upper limb dystonia, tremor, and dyspraxia, reminiscent of corticobasal degeneration. In the further course, the patient developed disorientation, confusion, a...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2000-12-01 00:00:00
abstract：:This retrospective study was performed to reevaluate the effect of polytherapy on mood and cognitive function. 139 patients with refractory epilepsy were screened with a neuropsychological test battery and a depression score. Our regression model with age at admission, duration of the disorder and number of antiepilep...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2011-03-01 00:00:00
abstract：:Amyotrophic Lateral Sclerosis and CHARGE syndrome are complex neurological disorders, which never occurred together in the same family and, to date, no putative correlation between them has been described on PubMed Central. Due to our aim was to evaluate the presence of different genetic variants involved in these pat...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-018-1029-2
更新日期：2018-12-01 00:00:00
abstract：:The authors report a case of ataxic hemiparesis (dysarthria-clumsy hand syndrome plus crural hemiparesis with homolateral ataxia), secondary to a single cerebellar lacuna (CT scan), in a left rostral para-vermian position in the vicinity of the peduncle and secondary to arterial hypertension. They discuss the nosologi...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1989-03-01 00:00:00
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：:To analyze the clinical characteristics and PRRT2 gene mutation of self-limited familial infantile epilepsy and evaluate the treatment responses of different antiepileptic drugs in self-limited familial infantile epilepsy. We reviewed the clinical feature and genetic mutation results and treatment responses of two sib...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01348-9
更新日期：2020-08-01 00:00:00
abstract：:The percentage of echinocytes in the blood from patients affected by Duchenne muscular dystrophy, in mothers carriers of the dystrophic state, and in Steinert dystrophic patients, has been investigated after addition of low levels of lysolecithin. The echinocyte content was significantly higher in both Duchenne patien...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1981-07-01 00:00:00
abstract：:Public awareness is essential for the early diagnosis, treatment, and prevention of stroke. In particular, young adults represent an important avenue for increasing awareness and precluding the adoption of unhealthy, risk-increasing behaviors. This study was the first to investigate the basic knowledge of Korean adole...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-017-0754-2
更新日期：2017-06-01 00:00:00
abstract：:We aimed to examine the sensitivity and specificity of the Ankara University Cerebral Dominance Inventory (AUCDI) in determining left cerebral dominance compared with the Wada test. The AUCDI and Wada test were applied to 49 patients referred to Ankara University for epilepsy surgery. Hand, foot and 'total' preference...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-013-0212-8
更新日期：2014-03-01 00:00:00
abstract：:The most common causes of chronic cough in nonsmokers are postnasal drip syndrome, asthma, and gastroesophageal reflux disease. Drugs are also important in the etiology of resistant cough. Most common drugs inducing cough are the ACE inhibitors. Many drugs other than ACE inhibitors can also cause dry cough and one amo...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-012-0016-2
更新日期：2012-06-01 00:00:00
abstract：:We wanted to explore possible differences in disease presentation, frequency, and age of onset of dementia with Lewy bodies (DLB) between first-generation immigrants (FGI) and patients born in Belgium (PBIB). We conducted a retrospective study on all patients of our Memory Clinic between June 1, 2010 and January 31, 2...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01492-2
更新日期：2020-09-15 00:00:00
abstract：:Non-traumatic dural arteriovenous fistula/malformation (dural AVF/AVM) presenting with pure subdural hematoma (SDH) is relatively rare. We report on a male patient who showed pure acute SDH and was diagnosed as having dural AVF on the convexity near the superior sagittal sinus (SSS), based on angiographic findings. A ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2010-06-01 00:00:00
abstract：:Multiple sclerosis (MS) often starts in the form of clinically isolated syndrome (CIS) and only some of the CIS patients progress to relapsing-remitting MS (RRMS). Biomarkers to predict conversion from CIS to MS are thus greatly needed for making correct treatment decisions. To identify a predictive cerebrospinal flui...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-018-0954-4
更新日期：2019-03-01 00:00:00
abstract：BACKGROUND:The present study was designed to describe the characteristics, risk factors and prognosis of patients diagnosed with CVT in our center. METHOD:The present retrospective cross-sectional study was conducted on patients diagnosed with cerebral vein or sinus thrombosis based on the patients' clinical presentat...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2010-09-01 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：: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：:Transient ischemic attack (TIA) is defined as a brief episode of neurological dysfunction caused by focal cerebral ischemia. TIA is a critical early warning signal of stroke. Patients with TIA may have long-term cognitive decline. The pathogenesis and pathological changes of TIA have not been fully elucidated. Animal ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：10.1007/s13760-020-01295-5
更新日期：2020-04-01 00:00:00
abstract：:Several genome-wide association studies have already explored the associations between rs498872 polymorphism and glioma, but the results of these studies were not consistent. Consequently, we conducted a meta-analysis of relevant studies to better analyze the effects of rs498872 polymorphism on individual susceptibili...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,meta分析
doi：10.1007/s13760-019-01081-y
更新日期：2019-06-01 00:00:00
abstract：:Estradiol (E2) has been used in the treatment of Alzheimer's disease (AD) for many years but with various responses. Evidence from clinical studies, randomized clinical trials (RCTs), and observational studies further underscores the importance of E2 in postmenopause women diagnosed with AD. The purpose of this articl...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：10.1007/s13760-015-0593-y
更新日期：2016-09-01 00:00:00
abstract：:We report a consanguineous family with a homozygous and heterozygous membrane metallo-endopeptidase (MME) mutation (c.467delC) and two clinical conditions: fetomaternal alloimmune membranous glomerulopathy (FMG) and hereditary motor and sensory axonal neuropathy. The penetrance of both phenotypes was variable. Some in...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01275-9
更新日期：2020-02-01 00:00:00
