Abstract:
:Recent developments in genetic research have led to the localization and identification of the causative gene defect in a large number of neurological diseases. This paper describes some of the basic principles of molecular genetics and the strategies that have been followed in the search for the gene for facioscapulohumeral muscular dystrophy (FSHD), beginning with the recent localization to chromosome 4q. Many questions remain concerning the pathogenesis and possible genetic heterogeneity of this autosomal dominant myopathy. Hitherto, most evidence favours a genetically homogeneous disorder, but only the isolation and detailed characterization of the FSHD gene will resolve these issues completely.
journal_name
Clin Neurol Neurosurgjournal_title
Clinical neurology and neurosurgeryauthors
Brouwer OF,Wijmenga C,Frants RR,Padberg GWdoi
10.1016/0303-8467(93)90086-vsubject
Has Abstractpub_date
1993-03-01 00:00:00pages
9-21issue
1eissn
0303-8467issn
1872-6968journal_volume
95pub_type
杂志文章,评审abstract:OBJECTIVE:Spinal cord stimulation has been proven highly effective in the treatment of Complex Regional Pain Syndrome (CRPS). The definitive implantation of a neurostimulator is usually preceded by a therapeutic test (trial), which has the purpose of identifying whether the patient would respond positively to neuromodu...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2018.06.014
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:Cerebral microbleeds (CMBs) are known to be indicative of bleeding-prone microangiopathy. Little is known about the significance of CMBs in anticoagulated patients. We determined the frequency of new CMBs in ischemic stroke patients who had been receiving warfarin treatment for 2 years. METHODS:A total of 20...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.03.004
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:The National Institute for Health and Clinical Excellence (NICE) guidelines for multiple sclerosis (MS) recommend the time from initial presentation to first neurological evaluation to be no longer than 6 weeks, and a further 6 weeks until any necessary investigations are completed. The aim of this study was...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.09.025
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:Motor imagery (MI) impairment has been reported in individuals with multiple sclerosis (MS). The present study was designed to investigate neural evidence for MI impairment and its relationship to working memory in MS patients. METHODS:The study participants included 24 early stage MS patients (age: 22-40/m...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.04.002
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVE:Primary malignant brain tumors are relatively uncommon, and their incidence and survival rates have seldom been reported. PATIENTS AND METHODS:We identified all patients with malignant brain tumors in Taiwan between 1997 and 2012 using the National Health Insurance database. We estimated the stratified incid...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2017.05.021
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVE:Seizures are common complications following intracranial aneurysms and present a greater risk to pediatric patients than adults. Though the risk factors of seizures in adults with intracranial aneurysms have been well documented, the risk factors in pediatric patients remain unknown. The aim of this study was...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2019.105616
更新日期:2020-02-01 00:00:00
abstract::Over the past year huge advances have been made in our ability to determine the genetic aetiology of many neurological diseases through the utilisation of next generation sequencing platforms. This technology is, on a daily basis, providing new breakthroughs in neurological disease. The aim of this article is to clear...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,评审
doi:10.1016/j.clineuro.2012.09.030
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:The optimal management of chronic subdural hematomas remains a challenge. Twist drill craniotomy or burr hole trephination are considered optimal initial treatments, but the reoperation rate for hematoma recurrence and other complications is still high. Therefore, evaluation of possible risk factors for init...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2015.08.002
更新日期:2015-11-01 00:00:00
abstract::We present a 34-year-old woman with right hemidystonia. She had a cavernous angioma (CA) of left thalamo-mesencephalic junction, revealed by magnetic resonance imaging (MRI). Her symptoms were moderately alleviated by biperiden 20 mg daily. We identified 11 patients reported in the literature to have movement disorder...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,评审
doi:10.1016/s0303-8467(98)00046-8
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVES:Glioblastoma recurs within 2 cm from the primary tumor's margins in 90-95% of cases. Natural history of recurrence is not well defined. The aim of this study was to verify if pattern of recurrence can be influenced by the extent of surgery. PATIENTS AND METHODS:131 patients with glioblastoma underwent tumor...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2012.04.005
更新日期:2013-01-01 00:00:00
abstract::Thirty-six parkinsonian patients were selected by age of onset of over 70 and a minimum of five years duration of illness. The mean age of onset was 73.5 years and 30 patients were still alive after a mean of 7.2 years. We found that late onset Parkinson's disease has a relatively benign course with more "axial sympto...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/0303-8467(92)90049-9
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVE:This prospective study will evaluate the socioeconomic factors responsible for the discontinuation of secondary preventive treatment of stroke in India and its outcome. DESIGNS METHODS: A total of 1212 stroke patients (male=708, mean age 58 ± 2 years; female=504, mean age 56 ± 2 years; intra-cerebral haemorrh...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2010.06.007
更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:Acute encephalitis syndrome (AES) is a constellation of symptoms that includes fever and altered mental status. Most cases are attributed to viral encephalitis (VE), occurring either in outbreaks or sporadically. We conducted hospital-based surveillance for sporadic adult-AES in rural Central India in order ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.04.008
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVES:To evaluate the efficacy and safety of pre-operative Halo-gravity traction in the treatment of severe neurofibromatosis type 1 and congenital scoliosis patients with thoracic rotatory subluxation. PATIENTS AND METHODS:Patients with neurofibromatosis type 1 and congenital scoliosis undergoing Halo-gravity tr...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2019.105548
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:This study aims to investigate the genetic predisposition of haptoglobin (Hp) genotype as a predictor for cerebral vasospasm (CV) after acute subarachnoid hemorrhage (aSAH) in the Egyptian population. This permits CV risk factors stratification of patients with aSAH. Hence, it will guide the treatment plan an...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2020.106296
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:Cervical spinal injuries occur in 2.0-6.6% of patients after blunt trauma and can have devastating neurological sequelae if left unrecognized. Although there is high quality evidence addressing cervical clearance in asymptomatic and symptomatic awake patients, cervical spine clearance in patients with altered...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2014.02.006
更新日期:2014-05-01 00:00:00
abstract::Although several cases of radiation-induced skin injury (RSI) have been reported in association with neurointerventional procedures such as endovascular embolization for cerebral aneurysm, cerebral arteriovenous malformation, and dural arteriovenous fistula, in most cases the absorbed doses are not measured directly; ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2010.03.019
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVES:There is limited information about risk factors of young ischemic stroke in Qatar. The aim of this study was to describe the risk factors and subtypes of young ischemic stroke among Qatari and non-Qatari residents. PATIENTS AND METHODS:Hospital based prospective observational study involving all young adult...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2007.07.006
更新日期:2007-11-01 00:00:00
abstract::Intracranial meningiomas such as olfactory groove meningioma (OGM) and tuberculum sellae meningioma (TSM) arising at the anterior skull base are amenable to surgical resection. Traditionally, this has been achieved by transcranial approaches (TCAs), however, there has been an evolution in an endoscopic endonasal appro...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,meta分析
doi:10.1016/j.clineuro.2018.08.029
更新日期:2018-11-01 00:00:00
abstract::Spinal pathology resulting in cerebrospinal fluid (CSF) leak and intracranial hypotension is an infrequently reported and a potentially severe cause of headaches. We present a case of cerebrospinal fluid (CSF) leak caused by a thoracic disk herniation successfully treated with two targeted epidural blood patches. Alth...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,评审
doi:10.1016/j.clineuro.2016.02.017
更新日期:2016-04-01 00:00:00
abstract::We report on a 36 year-old woman who had sensorimotor and sphincter dysfunction 0.5 day after having an epidural anesthesia to deliver her baby. The patients' neurological deficits recovered gradually and she could walk without support 1.5 months after the operation. However, her neurological function deteriorated 4 m...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/s0303-8467(97)00086-3
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVES:The frequency of suboccipital injections to treat headaches has increased. The third segment of the vertebral artery is located in the suboccipital triangle and its main muscular branch, the suboccipital artery of Salmon (SAS), supplies blood to the suboccipital muscles. The purpose of this study was to radi...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.11.020
更新日期:2014-02-01 00:00:00
abstract::This study reports a Chinese family that has suffered from occipital encephalocele over five generations with a pattern of autosomal dominant inheritance. There were 113 family members in this family, and 21 of them had an occipital subscalp encephalocele. The patients with the disease showed normal or nearly normal n...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2006.03.003
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:(1) To determine the frequency of subarachnoid blood spread following epidural blood patch (EBP) in a cohort of subjects with spontaneous intracranial hypotension (SIH). (2) To describe the outcome of these patients. PATIENTS AND METHODS:In a cohort of 106 patients exhibiting SIH, spiral spinal CT scans were...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2015.11.007
更新日期:2016-01-01 00:00:00
abstract::Infiltration of brain neoplasms by mononuclear cells including monocytes/macrophages has attracted little attention since they have marked morphological heterogeneity. Twenty-seven meningiomas were studied by anti-CD68 antibody-gated flow cytometry and by immunohistochemical analysis using the anti-CD68 antibodies. Fl...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/s0303-8467(99)00052-9
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVES:Stroke is an important public health problem in most countries. Therefore, the treatment of stroke and its complications is important. Intracerebral hemorrhage is one of the complications of ischemic stroke. This study aimed to investigate the risk of hemorrhage in patients with acute ischemic stroke and pro...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2018.03.007
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:Cognitive impairment and seizures are both common conditions in patients with cerebrovascular disease. PURPOSE:The present study investigates whether the occurrence of late-onset seizures, following an ischemic stroke, contributes to vascular cognitive impairment. PATIENTS AND METHODS:The mean Mini-Mental ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2005.10.008
更新日期:2006-10-01 00:00:00
abstract::Multiple sclerosis is no longer considered to simply be an autoimmune demyelinating disease. Axonal destruction is another central pathological feature and a contributor to the accumulating disability of disease progression. The mechanism underlying axonal pathology has not been fully clarified but does not appear to ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,评审
doi:10.1016/j.clineuro.2004.02.017
更新日期:2004-06-01 00:00:00
abstract:OBJECTIVES:Intracranial arterial stenosis may progress or regress, of which the diagnosis is important to predict the risk of stroke or to evaluate the response of treatment. Transcranial Doppler (TCD) seems to be useful for this purpose, however, optimal diagnostic criteria have not been validated yet. Our study was d...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2019.04.021
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:The natural history of multiple sclerosis (MS) in Brazil has been available in different regions of country. There is no nationwide population-based studies that express general data in Brazil. OBJECTIVE:To review and synthesize available data about MS in Brazil. MATERIAL AND METHODS:Systematic review was ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,评审
doi:10.1016/j.clineuro.2016.07.011
更新日期:2016-12-01 00:00:00