Abstract：
:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small blood vessels disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH 3). We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene and varying disease expression. One of the two family members with the confirmed mutation presented with all the main CADASIL symptoms; while, his affected father was nearly asymptomatic. Both family members had epilepsy, coronary artery disease, and abdominal aorta aneurysm. Our observation confirms there is phenotypic variability in CADASIL not only between, but also within, families carrying the same mutation.
journal_name
Neurol Neurochir Poljournal_title
Neurologia i neurochirurgia polskaauthors
Buczek J,Błażejewska-Hyżorek B,Cudna A,Lusawa M,Lewandowska E,Kurkowska-Jastrzębska I,Członkowska Adoi
10.1016/j.pjnns.2016.04.008subject
Has Abstractpub_date
2016-07-01 00:00:00pages
262-4issue
4eissn
0028-3843issn
1897-4260pii
S0028-3843(16)30024-Xjournal_volume
50pub_type
杂志文章abstract：:Peripheral nerves repairing using freeze-thawed skeletal muscle autografts were compared to conventional nerve grafts with respect to their electrical properties. It was found that the amplitude and distal latency of action potentials in both groups were not significantly different 3 and 6 months after the operation. ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：:A giant, unclippable right ICA aneurysm located partially intracavernously is reported with neck deriving at C3 level. The aneurysm caused optic chiasm compression, progressive left eye vision loss and exophthalmus as well as persistent headache. The presence of the aneurysm was first found in CT and confirmed by angi...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：2000-11-01 00:00:00
abstract：:A retrospective analysis of 58 patients with spontaneous SAH was conducted. 33 patients suffered on severe SAH, clinical grading IV and V (Hunt, Hess). 11 died without treatment due to decerebrate rigidity. 22 patients were treated, 16 underwent a clipping procedure and 6 were selected for endovascular coilembolizatio...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：2000-01-01 00:00:00
abstract：:The theoretical relations between blood pressure (MABP), intracranial pressure (ICP) and cerebral perfusion pressure (CPP) as well as the new Cerebral Circulation-Pressure Index (CCPI) are presented in the paper. The special nomogram collecting all of these parameters was constructed. CPPI was defined as a quotient of...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：2000-01-01 00:00:00
abstract：:Time course of vasospasm in man has a big impact on clinical pisture, it also has an influence on the decision of surgery. The presence of acute stage of vasospasm is still under discussion. Many authors deny its existence. It is well known that positive decision about early operating has a crucial role in case of vas...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：2001-03-01 00:00:00
abstract：:The frequency of dyskinesias connected with L-DOPA treatment of certain extrapyramidal system diseases was studied. Among 111 studied patients with Parkinson's disease drug-induced dyskinesias were observed in 56 cases (that is 50% of the treated patients) while in the group of other extrapyramidal system diseases (to...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1981-07-01 00:00:00
abstract：:We studied the percentage of double positive (CD4+CD8+) form of T-cells in a group (total 77) multiple sclerosis (MS) patients, measured by means of monoclonal antibodies anti-CD3, CD4/FITC, CD8/RPE and flow cytometry FACScan (Becton Dickinson). In our study we have shown that the percentage of the double positive T c...
journal_title：Neurologia i neurochirurgia polska
pub_type： 临床试验,杂志文章
doi：
更新日期：2000-11-01 00:00:00
abstract：BACKGROUND:Aim was to describe the clinical spectrum, therapy, and outcome of ischemic strokes under therapy with new oral anticoagulants (NOAC). METHODS AND RESULTS:A literature research was carried out in PubMed. Clinical trials as well as case reports were included. Four large trials comparing NOAC with warfarin re...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：10.1016/j.pjnns.2014.03.001
更新日期：2014-01-01 00:00:00
abstract：:Idiopathic Parkinson Disease accounts for approximately 75% of all cases of parkinsonism. The described case of Corticobasal Degeneration (CBD), until now not presented in Polish medical literature is a relatively rare example of so-called "parkinson plus" syndrome. The authors present the case of a 56 years old woman...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1998-11-01 00:00:00
abstract：:Authors evaluated the activity of c-AMP in the CSF as the biochemical marker for evaluation of epileptic seizure activity in patients with epilepsy. The impact of monitored phenytoin treatment on c-AMP activity in CSF was investigated. It was shown that the general tonic-clonic seizures cause a significant concentrati...
journal_title：Neurologia i neurochirurgia polska
pub_type： 临床试验,杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：BACKGROUND:Sex and blood level of sex hormones play a key role not only in the susceptibility to develop Parkinson's disease (PD) but also influence the natural course of the disease. The aim of this study was to compare reproductive lifespan events in females affected with PD and in "non-parkinsonian" age matched subj...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/j.pjnns.2014.08.004
更新日期：2014-01-01 00:00:00
abstract：:The paper presents the results obtained by 53 investigators implementing the first Polish multicentre study of the effectiveness and safety of tiagabine (Gabitril). The study included 81 patients with refractory epilepsy with partial seizures. The duration of the study was 16 weeks. For the initial 6 weeks, Gabitril w...
journal_title：Neurologia i neurochirurgia polska
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：2000-01-01 00:00:00
abstract：:The per cent and absolute numbers of lymphocytes T and B were calculated in 37 patients with hereditary diseases of the nervous system (torsion dystonia, hepatolenticular degeneration, idiopathic tremor) and in 22 donors. Reactions of active and full spontaneous complement-induced formation of rosettes and B cell dete...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1981-07-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Synovial cysts of the spine occur most frequently in the lumbosacral region. Methods of treatment vary, but in cases of chronic pain or neurological deficits surgical intervention is undertaken. The aim of this paper is to present indications, surgical technique and efficacy of surgical treatment...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5114/ninp.2012.31356
更新日期：2012-09-01 00:00:00
abstract：:There is little information on the efficacy of various surgical interventions in terms of health-related quality of life in Parkinson's disease (PD) patients. Most studies evaluated only motor symptoms of PD after surgical treatment avoiding subjective patient's assessment. The goal of this study is the assessment of ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND:Compared with surgical resection, endoscopic transsphenoidal surgery (TSS) for cholesterol granuloma (CG) in the petrous apex (PA) is associated with local recurrence due to obstruction of the drainage route. We present a detailed procedure of an endoscopic TSS using pedicle vascularized nasoseptal flap (PVN...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/j.pjnns.2016.08.006
更新日期：2016-01-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Diabetes mellitus (DM) is an in-dependent risk factor for cardiovascular diseases. The origin of diabetic microangiopathy is multifactorial; it affects all layers of the artery wall, causing endothelial and vasoreactivity impairment. The incidence of cerebral vasoreactivity failure in diabetic pa...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5114/ninp.2012.32175
更新日期：2012-11-01 00:00:00
abstract：AIM OF STUDY:This study aims to assess the prevalence of post-stroke cognitive impairment, and to evaluate the correlation of ASPECTS with impaired cognition. MATERIALS AND METHODS:150 patients presenting with acute middle cerebral artery territory ischaemic stroke were included in this study. Risk factors of ischaemi...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5603/PJNNS.a2021.0006
更新日期：2021-01-28 00:00:00
abstract：:Differential diagnosis in the material was based on the neurological and radiological findings made in 45 patients with third-ventricle tumours and 133 with subtentorial tumours. No clinical syndrome has been found which could help in reliable diagnosis concerning either of these locations of the tumour. Of decisive s...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
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journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1981-09-01 00:00:00
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journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5114/ninp.2012.31606
更新日期：2012-11-01 00:00:00
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journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：2002-07-01 00:00:00
abstract：:Epidural lipomatosis is most frequently seen in patients on chronic steroid treatment. Only fourteen cases of idiopathic spinal epidural lipomatosis have been described. In this report we present an additional case of this condition in a 38 year-old man. ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：:The report is based on the observation of 39 patients with parkinsonian syndromes treated with L-DOPA with inhibitor, including 30 patients treated during 2-6 years. It was found that treatment with L-DOPA with the inhibitor gave good or very good results in most patients with these syndromes with a relatively good dr...
journal_title：Neurologia i neurochirurgia polska
pub_type： 临床试验,杂志文章
doi：
更新日期：1981-07-01 00:00:00
abstract：:The occurrence of intracranial haemorrhage, epileptic seizures and focal neurological signs was estimated in the group of 40 patients with AVMs. Size of AVM, its localization was established by angiography. Maximum diameter of a haematoma was measured on preoperative CT. We found that small AVMs (diameter < 3 cm) are ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：2000-09-01 00:00:00
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journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/j.pjnns.2015.06.001
更新日期：2015-01-01 00:00:00
abstract：:During 10 years 15 085 patients were treated at the surgical department of the County Hospital in Wyszków including 415 cases of severe craniocerebral injury (2.7%). The author stressed and justifies the necessity of organization of intensive therapy and resuscitation units at the admission rooms of county hospitals f...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1975-05-01 00:00:00
abstract：:In the years 1969-1986 operations were carried out in 1650 cases of lateral prolapse of the lumbar nucleus pulposus at one level, they accounted for 75% of patients operated on for symptomatic sciatic pains. The operations were done in lateral recumbent position. In 29% of cases it was necessary to extend the typical ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1987-05-01 00:00:00
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journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:The author analysed 124 cases of grand mal seizures in patients aged above 16 years observed for 2 to 15 years finding sporadic tongue or oral mucosa biting in 55.7% of cases, involuntary passing of urine in 49%, simultaneous occurrence of both these signs in 37% defection in 8.1%, ejaculation in 1.6%, conjunctival o ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1984-05-01 00:00:00
