Abstract:
:Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c.1809 A>T, p.glu603Asp mutation in DYNC1H1. The main clinical features were congenital hip displacement, talipes, delayed motor development, wasting and weakness in lower limbs with relative sparing of upper extremities and very slow disease progression. SMALED is extremely rare and only a handful of families have been reported. Over the years other phenotypes including Charcot Marie Tooth type 2 and hereditary mental retardation with cortical neural migration defects have also been reported to be caused by DYNC1H1 mutations. This report aims to increase our awareness of SMALED and various other phenotypes associated with mutations in this gene.
journal_name
Neurol Neurochir Poljournal_title
Neurologia i neurochirurgia polskaauthors
Das J,Lilleker JB,Jabbal K,Ealing Jdoi
10.1016/j.pjnns.2017.12.004subject
Has Abstractpub_date
2018-03-01 00:00:00pages
293-297issue
2eissn
0028-3843issn
1897-4260pii
S0028-3843(17)30346-8journal_volume
52pub_type
杂志文章abstract::AVMs are vessel anomalies where a connection between arterial and venous systems is present and the capillary bed is absent between the two. AVMs tend to present with seizures, headaches, focal neurological deficits and hemorrhage. Hemorrhage is the most common form of presentation. AVM's have a 2-4% annual risk of he...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:10.1016/j.pjnns.2017.08.001
更新日期:2017-01-01 00:00:00
abstract::The author discusses 876 cases of discopathy treated surgically at the Neurosurgery Department in 1987. Better results were obtained in patients operated on within 6 months after the development of the first symptoms of disc prolapse. ...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1992-01-01 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::On the basis of a study of 218 control subjects in 10-year age groups the authors determined the mean levels and critical values of certain serum lipid components (cholesterol, triglycerides, beta-lipoproteins, esterified fatty acids and total lipids). Forty-two subjects were isolated (11.2%) with hyperlipoproteinaemi...
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:The aim was to conduct a pilot study of selected epidemiological aspects of multiple sclerosis (MS) in Poland. MATERIAL AND METHODS:Cross-sectional data were collected in 21 centres providing MS treatment. The demographic profile of the patients, medical history of MS, disability status, comorbi...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章,多中心研究
doi:10.1016/s0028-3843(14)60134-1
更新日期:2010-09-01 00:00:00
abstract::Certain clinical aspects of extradurally situated spinal tumours are presented stressing their importance for the diagnosis and therapeutic approach. The role of pain as the first clinical symptom is emphasized. Of great importance are the plan X-ray films of the spine which in nearly 70% of cases reveal changes in bo...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章,评审
doi:
更新日期:1993-03-01 00:00:00
abstract::The study presents a computer simulation of the cerebral blood flow in three variants of the circle of Willis. The redundant function of the circle of Willis during occlusion of the internal carotid and basilar arteries was estimated. The major role of the circle of Willis in the redistribution of blood to certain are...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract::The authors report two cases of familial progressive muscular atrophy of proximal localization, with late onset of signs which was associated with involvement of the motor nucleus of trigeminal nerve and hypoglossus nerve nucleus as well as with presence of gynaecomastia. Cases of coexistence of gynaecomastia with spi...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1976-07-01 00:00:00
abstract::Deep brain stimulation (DBS) of the ventral intermediate thalamic nucleus (Vim) has been recently introduced by Benabid and his colleagues as a new surgical procedure in the treatment of tremor-dominant Parkinson's disease (PD). The advantage of DBS Vim over lesioning (thalamotomy) is its reversibility and adjustabili...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract::An original method is presented used for production of experimental aneurysms in rats. The method may be useful in training for microneurosurgical treatment of aneurysms. ...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND AND AIM:General anesthesia (GA) is the most commonly used anesthetic technique for spinal surgery. This study aimed to compare spinal anesthesia (SA) and GA in patients undergoing spinal surgery, in terms of perioperative outcome and cost effectiveness. MATERIALS AND METHODS:The study included 80 patients w...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.pjnns.2014.05.005
更新日期:2014-01-01 00:00:00
abstract::In 23 patients with multiple sclerosis (group i) and 15 other subjects (group II) cell content of sterile exudate was studied in the skin window test of Rebuck. The results were compared. Cellular reaction of the skin was greater in group I than in group II and the difference was statistically significant. The number ...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1977-07-01 00:00:00
abstract::The authors studied the dynamics of EEG changes in 27 patients treated with L-dopa. The records obtained before treatment were compared with those made during treatment and with the clinical manifestations. In 8 cases the EEG pattern was normal before treatment and 6 of them improved (three-fourths of this subgroup). ...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1976-01-01 00:00:00
abstract::In the years 1965-1990 in the hospital department for treatment of spinal injuries 1330 patients with spinal lesions at the C5-Th1 levels were treated after admission early after trauma. The most frequent causes of injuries of this part of the spine were falls from horsecarts, jumping into water head first and traffic...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract::Fourteen patients with chronic glomerulonephritis and with Alport's syndrome were treated. Haemodialysis was performed 2--3 times weekly. The duration of treatment was from 10 months to 9 years. Serum levels of electrolytes, urea and creatinine were determined, the neurological condition was examined and nerve conduct...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1979-11-01 00:00:00
abstract::Lumbar infusion tests (IT) with different infusion rates (0.06 ml/min-1.2 ml/min) were used in order to investigate the intracranial pressure (ICP) and CSF outflow resistance (R) changes. Two groups of animals were studied: control group and animals with an 0.8 ml epidural balloon. In control group (without balloon) s...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract:OBJECT:Intramedullary hemangioblastomas are rare lesions. They can be related to von Hippel-Lindau syndrome or they may be sporadic. This study describes surgical treatment for this infrequent tumor. METHODS:Twelve consecutive patients received surgery to remove sporadic or von Hippel-Lindau syndrome-associated intram...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:10.1016/j.pjnns.2016.06.003
更新日期:2016-01-01 00:00:00
abstract::The aim of the work was to show the usefulness of neurological and radiological signs in the patients with L4 and L5 discopathy. The axial symptoms with the highest occurrence frequency and the differential symptoms closely connected with definite disc pathology: the type and/or the level of discopathy were defined. T...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章,评审
doi:
更新日期:1998-05-01 00:00:00
abstract:INTRODUCTION:Gliomas are commonly associated with the development of epilepsy; in some cases the two conditions share common pathogenic mechanisms and may influence each other. Brain tumor related-epilepsy (BTRE) complicates the clinical management of gliomas and can substantially affect daily life. STATE OF THE ART:T...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章,评审
doi:10.1016/j.pjnns.2018.06.001
更新日期:2018-08-01 00:00:00
abstract::The blood serotonin level was determined by the fluorescent method of Ashcroft in 13 patients with sciatic pains during the pains and after the disappearance. The serotonin level was usually higher at the time of pains. In the discussion the author reminds that serotonin level falls during a migrainous attack and poin...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1979-03-01 00:00:00
abstract::The aim of the study was to assess the occurrence of headache in acute ischaemic stroke and its association with type, aetiology and localization of stroke. 342 patients with stroke were analysed. Their average age was 70.8 +/- 13.1. Headache was observed in 17.8% stroke patients. There was no correlation between head...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract::Massive hematoma of the corpus callosum caused by blunt head trauma is an extremely rare lesion. Most frequent traumatic lesions involve the corpus callosum are diffuse axonal injuries. They might be associated with small hemorrhagic foci in the hemispheric and brain stem white matter, intraventricular hemorrhages, su...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:10.1016/j.pjnns.2016.04.005
更新日期:2016-07-01 00:00:00
abstract::The authors present two patients treated surgically for intracranial aneurysms. Within 2.5 and 4.6 years after surgery the repeated angiography performed after the second SAH revealed newly formed aneurysms in another localisation. These facts became a contribution to the etiopathogenetic considerations. ...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1995-07-01 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::The authors report a case of coexistence of Eales disease and multiple sclerosis in which signs of perivenous retinitis preceded by 25 years the appearance of neurological changes. Considering the similarity in the course of both disease and the histological character of perivascular changes the authors suggest presen...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1988-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the presen...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:10.1016/s0028-3843(14)60038-4
更新日期:2010-05-01 00:00:00
abstract::Melkersson-Rosenthal syndrome is a rare cause of recurrent facial nerve palsy. The syndrome is classically characterized by a triad of signs consisting of facial edema, recurrent peripheral facial nerve paralysis, and congenital fissured tongue, although it may also present in a mono- or oligosymptomatic form. The pap...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:2005-07-01 00:00:00
abstract::Clinical course of disease and results of EEG examinations of 6 patients with severe brain disturbances of various aetiology provided grounds for discussion on the phenomenon of periodic stereotyped EEG discharges (PSD) which is of considerable diagnostic value in some cases. The variability in appearance of these dis...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1977-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Headache after a head injury is one of the most frequent symptoms in patients after craniocerebral trauma. The aim of the study was to investigate changes in brain perfusion in patients with chronic post-traumatic headache a long time after craniocerebral trauma. PWI gives us the exact informatio...
journal_title:Neurologia i neurochirurgia polska
pub_type: 临床试验,杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::The study concerned the method of investigation of upper extremity nerves which makes possible a simultaneous measurement of the conduction velocity in the motor and sensory fibres over the whole length of the nerve. Recording of responses was based on the use of surface electrodes which are safe, less painful for the...
journal_title:Neurologia i neurochirurgia polska
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00