Abstract：
BACKGROUND AND PURPOSE:DYT1 dystonia is the most common form of inherited primary dystonia. The aim of the study was: 1) to evaluate the prevalence of the DYT1 mutation in a population of Polish patients with early-onset generalized dystonia and with other forms of familial dystonia, 2) to evaluate the frequency of the DYT1 mutation in patients with writer's cramp, 3) to characterize the phenotype of the DYT1 mutation in the Polish population, and 4) to define the group of patients in whom genetic testing is recommended.
MATERIAL AND METHODS:The following groups of patients were included in the study: 1) patients with early-onset (<30 years) generalized dystonia and those patients with onset after age 30 years who have relatives with early-onset dystonia, 2) patients with writer's cramp (focal or as part of segmental dystonia) independently of age of onset, 3) asymptomatic (adult only) relatives of the diagnosed DYT1 carriers. Genetic tests were performed in 63 subjects---28 sporadic cases of dystonia, 20 patients with familial dystonia, and 15 asymptomatic relatives of patients with confirmed DYT1 mutation.
RESULTS:The DYT1 mutation was found in 17 subjects--10 patients with dystonia and 7 asymptomatic relatives (from 6 families). In all mutation carriers dystonia occurred in one limb before age 26 years. In 8 patients, generalization of dystonia was observed and in 2 cases it remained in a focal form.
CONCLUSIONS:1. The prevalence of DYT1 mutation among patients with early-onset ( journal_name journal_title authors subject pub_date pages issue eissn issn pii journal_volume pub_type
abstract：:Thanks to endocrinological and radiological diagnostic improvement and development of pituitary adenoma neurosurgery, CT-examination became a routine examination in such cases, in selected situations supported with MRI-examination. The authors report a short bibliography review of radiologically difficult cases, expla...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：1991-09-01 00:00:00
abstract：BACKGROUND AND PURPOSE:The purpose of the study was to compare the results of operative treatment of tumours located in the sensory-motor cortex guided with functional magnetic resonance imaging (fMRI) combined with the neuro-na-vigation system to the results of classical operative treatment. MATERIAL AND METHODS:The ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5114/ninp.2013.39072
更新日期：2013-11-01 00:00:00
abstract：:From 1983 to 1988 25 infected shunt systems were found in 205 hydrocephalic children. Four children were treated successfully with antibiotics given into the shunt system and intravenously. Seventeen shunt systems had to be removed and Rikham reservoir or external drainage implanted. Antibiotics were given both into t...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Hemifacial spasm (HFS) is frequently accompanied by other symptoms, such as visual and auditory disturbances or pain. The aim of the study was to assess the occurrence of auditory symptoms accompanying HFS using subjective and objective methods, their relation with other HFS symptoms, and their r...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5114/ninp.2012.27451
更新日期：2012-01-01 00:00:00
abstract：:A man aged 51 developed signs of damage to the inferior part of the thoracic cord and lumbosacral cord due to a dissecting aneurysm of the abdominal aorta. The aneurysm was demonstrated by USG and CT investigations of the abdomen. ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1991-03-01 00:00:00
abstract：:Disturbances of glucose metabolism in epilepsy and other neurodegenerative diseases. Impairment of glucose and acetyl-CoA metabolism is a characteristic feature of several degenerative brain diseases. Presented paper provides experimental evidences that NO, aluminum and thiamine deficiency result in concordant disturb...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：2000-01-01 00:00:00
abstract：:Marchiafava-Bignami disease (MBD) is a rare fatal neurological disorder characterized by demyelination, primary degeneration, and necrosis of the corpus callosum. Although MBD is mostly associated with chronic alcohol consumption and malnutrition, it has been reported in non-alcoholic patients. Serotonin syndrome is a...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/j.pjnns.2017.10.011
更新日期：2018-03-01 00:00:00
abstract：BACKGROUND AND PURPOSE:The objective of the study was to assess bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) for patients with advanced Parkinson disease (PD). MATERIAL AND METHODS:The study population included 5 patients with bilateral STN DBS who completed a 5-year postoperative follow-up period....
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/s0028-3843(14)60401-1
更新日期：2010-01-01 00:00:00
abstract：:The authors describe iodinated contrast materials, which are commonly used in neuroradiological applications. The adverse reactions after their, administration are discussed. The indications for safer, non-ionic contrast media are presented. The protocol of prophylactic treatment of high risk patients is also formulat...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：
更新日期：1997-03-01 00:00:00
abstract：:The authors report a case of Jakob-Creutzfeldt disease diagnosed at autopsy. In the discussion attention is called to characteristic clinical manifestations and possibilities of intravital diagnosis of the disease. ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1977-03-01 00:00:00
abstract：:In a 57-year-old woman with a long history of multiple sclerosis a syndrome corresponding to the stiff-man syndrome was observed. ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1987-03-01 00:00:00
abstract：:In the group of 132 patients with diagnosed pseudoradicular pain syndrome (57 subjects) or evident sciatic neuralgia (75 subjects) besides clinical and radiological examination, additional skin electro-conduction evaluation, being the sympathetic system activity exponent, was performed. Diagnostic part of empiric meth...
journal_title：Neurologia i neurochirurgia polska
pub_type： 临床试验,杂志文章
doi：
更新日期：1999-01-01 00:00:00
abstract：:The authors discuss the results of surgical treatment of intracranial epidural haematomas in the light of own material of 84 cases. In relation to reports in the literature the authors call attention to diagnostic difficulties in atypical cases and discuss the importance of signs of prognostic value for the life of th...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1980-01-01 00:00:00
abstract：:The authors report the results of investigations of 33 healthy subjects and 33 patients with manifestations of intracranial circulatory disturbances in the vascularization area of the vertebrobasilar system. Type II rheography was used. All curves from the vertebral, vertebromastoid and frontomastoid leads were averag...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1982-07-01 00:00:00
abstract：:The authors studied 14 patients with epileptic seizures occurring from one to about 20 daily despite monitored pharmacological treatment. Two pairs of silver, properly insulated electrodes were applied to the subtentorial surface of both cerebellar hemispheres through burr-holes. The cerebellar surface was stimulated ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1981-09-01 00:00:00
abstract：:The purpose of the study was to establish the influence exerted by a supratentorial brain tumour on the EEG correlates of sleep, and to compare the results before and after operation. Five patients were studied (aged 38 to 59 years) who were treated surgically for supratentorial expanding lesions: two cases of meningi...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:In 50 patients with various tumours: 25 with pulmonary cancer and 25 with brain tumours, the peripheral nervous system was studied carefully, both clinically and electrophysiologically, with evaluation of orthodromic conduction in motor fibres and F wave. Evidence of peripheral nerve damage was found by physical exami...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：INTRODUCTION:Patients with obstructive sleep apnoea syndrome (OSAS) can be more prone to accidents due to excessive daytime sleepiness which can lead to attention deficits and thereby cause balance problems. One of the tests evaluating postural balance is static posturography (SPG). In this study, we aimed to evaluate ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5603/PJNNS.a2019.0059
更新日期：2020-01-01 00:00:00
abstract：:The identification of reliable biomarkers of Parkinson's disease (PD) is a pivotal step in the introduction of causal therapies. Saliva is a biofluid which may be involved in synuclein pathology in PD. We have reviewed current studies on salivary proteins and compounds in PD patients and healthy controls, and their po...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：10.5603/PJNNS.a2020.0011
更新日期：2020-01-01 00:00:00
abstract：:A statistical analysis of CSF lactate concentration and CSF pH and PCO2 was performed. The values were obtained from 211 samples taken from 76 neurosurgical patients. The values of pH and pCO2 were classified in three groups corresponding to the following three ranges of lactate concentration: below 15 mg%, 15-30 mg%,...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1976-07-01 00:00:00
abstract：BACKGROUND:Neuronal-glial tumors (ganglioglioma and dysembryoplastic neuroepithelial tumor) are a frequent cause of focal, drug-resistant and epilepsy in children and young adults, that is amenable for surgical treatment. AIM OF PAPER:Assessment of late outcome of surgical treatment and degree of seizure control, as w...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/j.pjnns.2017.04.001
更新日期：2018-01-01 00:00:00
abstract：:The author described a case of myasthenia and epilepsy in a female aged 36 years. The relationship between myasthenia and epilepsy was discussed. The additional factor which made the diagnosis difficult is bilateral deafness. ...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1996-09-01 00:00:00
abstract：:The authors describe a case of multiple intracerebral tuberculomas in a man aged 17 years. History data and results of investigations failed to suggest the presence of tuberculoma. The diagnosis was established after histological examination of a surgically removed lesion in the right occipital area. Intensive antitub...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Autosomal-dominant polycystic kidney disease (ADPKD) is a relatively frequent genetic disorder that is associated with increased prevalence of intracranial aneurysms (IAs). However, evidence on the natural history of IAs in ADPKD is suboptimal. That leads to difficulties in development of recommendations on surveillan...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.1016/j.pjnns.2017.08.007
更新日期：2017-01-01 00:00:00
abstract：:Somatosensory evoked potentials were recorded in two groups of patients with extrapyramidal syndromes including: 1) parkinsonian syndromes, 2) spasmodic torticollis. In the first group stereotactic lesions were produced at the borderline between VOp and Vim nuclei, and in the second group they were situated in VOa and...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1984-09-01 00:00:00
abstract：:In 1984 the authors determined by radioimmunoassay (ORIPI-RIA kit) the serum growth hormone levels in 35 patients with multiple sclerosis (20 M, 15 F) aged from 20 to 54 years, and in 10 cases the determination was carried out in the cerebrospinal fluid (CSF). The control group comprised 40 patients with ischialgia or...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：:There is an ever-growing need for molecular biomarkers in assessing clinical course and diagnosing neuromuscular disorders, as well as in monitoring drug therapy. With the development of high throughput techniques, there has been an acceleration in the discovery of potential biomarkers. It is quite easy to find potent...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章,评审
doi：10.5603/PJNNS.a2019.0023
更新日期：2019-01-01 00:00:00
abstract：:In 48 patients the acid-base equilibrium in the CSF and blood was determined on the 2nd day after intracranial operation. In the postopertive period various disturbances of this equilibrium were found which were probably various stages of metabolic acidosis compensation in the CSF which was a reflection of metabolic (...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1975-07-01 00:00:00
abstract：:The authors present a case report of a 28-year-old patient with hepatic, but no neurological, signs of Wilson disease, with pathological changes in both the globi pallidi and caudate found with routine brain magnetic resonance imaging (MRI). The patient was recommended for liver transplantation by hepatologists, and d...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：10.5114/ninp.2013.36763
更新日期：2013-07-01 00:00:00
abstract：:The analysis of clinical features of groups of patients with frequent and rare epileptic seizures showed that the mean age of the first seizure, the mean age at the time of examination, and the mean duration of the disease were not significantly different in both studied groups. In the group with frequent seizures a s...
journal_title：Neurologia i neurochirurgia polska
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
