[show abstract][hide abstract] ABSTRACT: Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease due to deficiency or absence of arylsulfatase A enzyme (ASA) with sulfatide accumulation in the central and peripheral nervous system, kidneys, and gallbladder, leading to many dysfunctions. One of the clinical forms of the disease is a late juvenile MLD. To our best knowledge, this is the first report describing increased Tau/pTau and normal Aβ1-42 concentrations in the CSF of the late juvenile MLD patient.
Journal of Neural Transmission 05/2012; 119(7):759-62. · 3.05 Impact Factor
[show abstract][hide abstract] ABSTRACT: Amyotrophic lateral sclerosis (ALS, 'Lou Gehrig disease') is the most common, progressive, neurodegenerative, motor neuron disease, causing damage to upper and lower motor neurons, leading to paralysis and death within 3-5 years. Majority of ALS cases are sporadic ALS (SALS) and only 5-10 % of cases are familial ALS (FALS). Pathogenesis of ALS is complicated and still unclear, including genetic, glutamate excitotoxicity, oxidative stress, mitochondrial dysfunction, neurofilament accumulation, impaired trophic support, altered glial function, viral infection, immune imbalance and impairment of the blood-brain, blood-spinal cord and blood-cerebrospinal fluid barriers (BBB/BSCB/BCSFB). The CSF analysis is still one of the basic laboratory tools and might reflect pathophysiological alterations in the course of the disease and could provide an insight into disease pathomechanisms. The most important aim of its analysis is evaluation of blood-CSF barrier, which is altered in 46 % of ALS patients. The CSF biomarkers may give insight into ALS pathophysiology and may be useful for early, presymptomatic diagnosis, therapeutic monitoring and the development of new therapeutic strategies. This review summarizes the general concepts of biomarkers in CSF of ALS patients and their potential usefulness in further research.
Journal of Neural Transmission 05/2012; 119(7):747-57. · 3.05 Impact Factor
[show abstract][hide abstract] ABSTRACT: Cell damage during the course of inflammation results in cytoplasmic actin release, which if not eliminated by the extracellular actin scavenger system, composed of gelsolin and vitamin D binding protein, can cause dysfunction of hemostasis and toxicity towards surrounding cells. In this study, we test the hypothesis that an inflammatory reaction induced by central nervous system infections such as tick-borne encephalitis (TBE) or Lyme neuroborreliosis (LNB) will result in plasma gelsolin concentration changes in the blood and cerebrospinal fluid (CSF).
Quantitative Western blot was used to determine gelsolin levels in 58 samples, which include: 29 patients without infection (diagnosed with conditions such as idiopathic cephalalgia, idiopathic Bell's facial nerve palsy and ischialgia due to discopathy in which standard CSF diagnostic tests show no abnormalities), 12 patients diagnosed with TBE, and 17 patients diagnosed with LNB sub forma meningitis.
The gelsolin concentration in the blood of patients with TBE (163.2 ± 80.8 μg/ml) and LNB (113.6 ± 56.8 μg/ml) was significantly lower (p < 0.05 and p < 0.001, respectively) compared to the control group (226.3 ± 100.7 μg/ml). Furthermore, there was no statistically significant difference between the CSF gelsolin concentration in patients with TBE (3.9 ± 3.3 μg/ml), LNB (2.9 ± 1.2 μg/ml) and the control group (3.7 ± 3.3 μg/ml). An observed decrease in gelsolin concentration in the blood of TBE and LNB patients supports previous findings indicating the involvement of gelsolin in the pathophysiology of an inflammatory response. Therefore, evaluation of blood gelsolin concentration and administration of recombinant plasma gelsolin might provide a new tool to develop diagnostic and therapeutic strategies for TBE and LNB.
[show abstract][hide abstract] ABSTRACT: Prompt diagnosis and early treatment of cerebrospinal fluid (CSF) leakage minimizes the risk of severe complications. In patients presenting with clear fluid nasal discharge it is important to identify the nature of the rhinorrhea. The CSF leakage may occur as post-traumatic, iatrogenic, spontaneous or idiopathic rhinorrhea. The differential diagnosis of CSF rhinorrhea often presents a challenging problem. The confirmation of CSF rhinorrhea and localization of the leakage may be diagnosed by CT, MRI cisternography and MRI cisternography in combination with single photon emission tomography or radioisotopic imaging. Although these methods allow estimation of the CSF leakage with high accuracy, they are expensive and invasive procedures. Therefore, biochemical methods are still used in the differentiation. Although the most common diagnostic method for screening CSF leakage is glucose oxidase, its diagnostic sensitivity and specificity is generally unsatisfactory. False negative results may occur with bacterial contamination and false positive results are common in diabetic patients. Glucose detection is not recommended as a confirmatory test. As such, other biomarkers of the CSF leakage, such as beta-2-transferrin (beta-2 trf) and beta-trace protein (betaTP) are necessary to identify and confirm of this condition.
Clinica chimica acta; international journal of clinical chemistry 02/2011; 412(11-12):837-40. · 2.54 Impact Factor
[show abstract][hide abstract] ABSTRACT: Moyamoya disease is a progressive vasculopathy leading to stenosis of the main intracranial arteries. The incidence of moyamoya disease is high in Asian countries; in Europe and North America, the prevalence of the disease is considerably lower. Clinically, the disease may be of ischaemic, haemorrhagic and epileptic type. Cognitive dysfunction and behavioral disturbance are atypical symptoms of moyamoya disease.Characteristic angiographic features of the disease include stenosis or occlusion of the arteries of the circle of Willis, as well as the development of collateral vasculature. Currently, magnetic resonance angiography and CT angiography with multi-row systems are the main imaging methods of diagnostics of the entire range of vascular changes in moyamoya disease.The most common surgical treatment combines the direct arterial anastomosis between the superficial temporal artery and middle cerebral, and the indirect synangiosis involving placement of vascularised tissue in the brain cortex, in order to promote neoangiogenesis. Due to progressive changes, correct and early diagnosis is of basic significance in selecting patients for surgery, which is the only effective treatment of the disease. An appropriate qualification to surgery should be based on a comprehensive angiographic and imaging evaluation of brain structures.Despite the rare occurrence of moyamoya disease in European population, it should be considered as one of causes of ischaemic or haemorrhagic strokes, especially in young patients.
Polish journal of radiology / Polish Medical Society of Radiology. 01/2011; 76(1):73-9.
[show abstract][hide abstract] ABSTRACT: Our aim was to define the type and frequency of symptoms in patients with neurophysiologically confirmed carpal tunnel syndrome (CTS). We also assessed the incidence of anxiety and depression in CTS and control group.
After carrying out neurophysiologic examination 87 patients were diagnosed with CTS, 50 patients without confirmed CTS diagnosis served as a control group. All patients underwent thorough neurological examination and completed a questionnaire about severity and localization of their symptoms. State-Trait Anxiety Inventory (STAI), Self Rating Anxiety Scale (SAS) and Beck's depression inventory were also filled in by the patients.
In CTS patients major symptoms were: paresthesias and nocturnal aggravation of symptoms; pain was predominant sign in control group. There were no statistically significant differences between CTS patients and control group concerning emotional (depression and anxiety) disturbances. In CTS patients depression and anxiety were correlated with: diminished sensation, hand weakness, thenar atrophy and hand pain.
Emotional disturbances appear to be linked with objective CTS symptoms and with pain and they increase with carpal tunnel syndrome intensity.
[show abstract][hide abstract] ABSTRACT: Extracellular gelsolin (GSN) and GC-globulin/Vitamin D-binding protein (DBP) appear to play an important role in clearing the actin from extracellular fluids and in modulating cellular responses to anionic bioactive lipids. In this study we hypothesized that cellular actin release and/or increase in bioactive lipids associated with multiple sclerosis (MS) development will translate into alteration of the actin scavenger system protein concentrations in blood and cerebrospinal fluid (CSF) of patients with MS.
We measured GSN and DBP concentrations in blood and CSF obtained from patients diagnosed with MS (n = 56) in comparison to a control group (n = 20) that includes patients diagnosed with conditions such as idiopathic cephalgia (n = 11), idiopathic (Bell's) facial nerve palsy (n = 7) and ischialgia due to discopathy (n = 2). GSN and DBP levels were measured by Western blot and ELISA, respectively.
We found that the GSN concentration in the blood of the MS group (115 ± 78 μg/ml) was significantly lower (p < 0.001) compared to the control group (244 ± 96 μg/ml). In contrast, there was no statistically significant difference between blood DBP concentrations in patients with MS (310 ± 68 μg/ml) and the control group (314 ± 82 μg/ml). GSN and DBP concentrations in CSF also did not significantly differ between those two groups.
The decrease of GSN concentration in blood and CSF of MS subjects suggests that this protein may be involved in chronic inflammation associated with neurodegeneration. Additionally, the results presented here suggest the possible utility of GSN evaluation for diagnostic purposes. Reversing plasma GSN deficiency might represent a new strategy in MS treatment.
[show abstract][hide abstract] ABSTRACT: Parkinson's disease is one of the most common progressive neurodegenerative diseases of the brain, usually leading to significant disability. Rehabilitation, in addition to symptomatic pharmacotherapy, should be the mainstay of treatment for each patient. The aim of this study was to collect data on the use of different methods of rehabilitation treatment for patients with Parkinson's disease living in the area of Bialystok (before 1998 the province of Bialystok) and evaluation of environmental, social and health factors, which affect the use of this form of treatment.
We evaluated patients with Parkinson's disease treated in neurological departments in Bialystok and Choroszcz near Bialystok over the next 12 months. It was conducted using a specially constructed for this purpose questionnaire. The course of Parkinson's disease was also assessed in the Hoehn and Yahr and the Schwab and England scale.
We have studied 88 patients with clinical diagnosis of Parkinson's disease (48 women and 40 men), mean age 68.7 years. It was found that only 73% of those surveyed had ever been rehabilitated. In 27% of patients had never been used any rehabilitation treatment. It was shown that the level of education positively influences the use of rehabilitation, while the coexistence of additional diseases, living in the country and the older age impede the use of physiotherapy. The stage of disease and sex of patients did not affect the use of rehabilitation. Patients were primarily rehabilitated in a hospital. Among the most commonly used treatments were kinesis therapy, massage and hydrotherapy.
The study indicates too low access of patients with Parkinson's disease to rehabilitation and confirms purposefulness of initiating information and education action about the need for physiotherapy treatment in these group of patients.
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 10/2010; 29(172):250-4.
[show abstract][hide abstract] ABSTRACT: Lyme borreliosis is a multisystem disease and when involves the nervous system it is termed neuroborreliosis. The symptomatology of peripheral neuroborreliosis is rich and varied. The early symptoms are asymmetric polyradiculopathies and paralysis of the cranial nerves (most commonly facial nerve). Thereafter, there are multifocal mononeuropathies and sensory-motorpolyneuropathies. Difficulties in making a correct diagnosis can result from the long time lag between tick bite and the occurrence of neurological symptoms. In the treatment the most important role play antibiotics. CASE REPORTS: We report the cases of three patients with symptoms of damage to various structures of the peripheral nervous system in the course of Borrelia burgdorferi infection. In all cases, clinical improvement was obtained after treatment with antibiotics, which further confirms the diagnosis of neuroborreliosis. CONCLUSIONS: About neuroborreliosis as a cause of peripheral neuropathy we should always think in the case of vague symptoms of peripheral nervous system lesions in patients with potential exposure to tick bites. Peripheral neuropathies may occur a long interval from the tick bite and are not always preceded by other forms of the disease.
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 08/2010; 29(170):115-8.
[show abstract][hide abstract] ABSTRACT: Sphingosine 1-phosphate (S1P) is a pleiotropic mediator that is critically involved in the development of an inflammatory response in various pathological conditions. We hypothesize that during the course of multiple sclerosis (MS) development, chronic inflammation will result in the alteration of S1P levels in blood and cerebrospinal fluid (CSF). We evaluated S1P concentrations in blood and CSF obtained from 66 subjects, including 40 patients diagnosed with MS and 26 subjects of a control group that included patients diagnosed with idiopathic cephalgia and idiopathic (Bell's) facial nerve palsy. HPLC techniques were used to determine S1P levels. We found that S1P concentrations in blood of the MS subject group (361.7+/-150.7 nM) did not differ from those of the control group (371.9+/-142.5 nM). However, S1P concentrations in CSF of the MS group were significantly higher (p<0.01) compared to the control group (2.2+/-2.7 versus 0.69+/-1.1 nM). The increase of S1P concentration in CSF of MS subjects suggests that this bioactive lipid is involved in chronic inflammation associated with MS and it may be useful to study S1P in a number of neurodegenerative diseases to provide better understanding of the mechanisms governing their development.
[show abstract][hide abstract] ABSTRACT: Moyamoya disease is a rare, progressive disease of the vessels diagnosed according to characteristic abnormalities of brain arteries in the angiography. The incidence of moyamoya disease in Europe is lower than in Asia and its clinical course in European population is probably different from Asiatic (older age of onset and rare incidence of hemorrhagic strokes). CASE REPORTS: Two young patients were diagnosed as moyamoya disease on the basis of clinical symptoms (ischaemic stroke) and results of brain vessels' angiography, which documented an occlusion of both internal carotid arteries above branching-off the ocular arteries in the first patient and stenosis of distal internal carotid arteries and proximal medial and anterior cerebral arteries in the second one. Both patients are under control of the Neurological Outpatient Department and their neurological state is stable. CONCLUSIONS: Despite that moyamoya disease is a rare cause of ischaemic stroke, it should be always considered as one of etiologic factors, especially in young patients.
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 10/2009; 27(160):334-7.
[show abstract][hide abstract] ABSTRACT: Gelsolin is a highly conserved intracellular actin-binding protein with an extracellular isoform, plasma gelsolin, for which there is not yet a clearly defined function.
In this study, we determined gelsolin concentrations in blood and cerebrospinal fluid (CSF) obtained from 25 subjects using immunoblotting and a functional assay that quantifies gelsolin's ability to accelerate actin polymerization.
The gelsolin concentration in CSF, determined by quantitative immunoblotting was 1.2-15.9 microg/ml (average 5.9 +/- 3.8 mug/ml). In samples obtained from patients diagnosed with conditions that do not alter standard CSF clinical tests [(idiopathic cephalgia, ischialgia due to discopathy, and idiopathic (Bell's) facial nerve palsy or entrapment radial neuropathy)], the average gelsolin concentration was 7.2 +/- 4.3 microg/ml. In contrast, the gelsolin concentration in samples obtained from patients diagnosed with multiple sclerosis was 2.1 +/- 0.7 microg/ml, and a similar low concentration was found in a patient recovering from a subarachnoid hemorrhage. The range of CSF gelsolin concentrations determined by the actin polymerization assay was 0.61-9.97 microg/ml (average 3.6 +/- 2.2 microg/ml). These lower values compared with those obtained from immunoblotting analysis suggest that CSF gelsolin may bind other CSF molecules leading to a reduction of its actin-binding activity.
The results presented here show that CSF gelsolin concentration is significantly altered in certain neurological conditions, including multiple sclerosis, indicating the possible utility of CSF gelsolin levels for diagnostic purposes.
European Journal of Neurology 07/2008; 15(6):584-8. · 4.16 Impact Factor
[show abstract][hide abstract] ABSTRACT: Transient cortical blindness is a very rare complication of cardiovascular and cerebral angiography procedures. We present a case of 63-years-old woman, who developed cortical blindness after coronary angiography. Computed tomography (CT) done immediately after blindness appearance showed bilateral hyperintensive areas (probably due to a leakage of contrast medium) in the occipital and parietal cerebral lobes. All visual symptoms disappeared during 48 hours and CT scan repeated after sight recovery did not show any focal lesions in the brain. A breakdown of the blood-brain barrier with direct contrast neurotoxicity seems to be the causal factor of neurological changes observed in our patient after coronary angiography.
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 05/2008; 24(143):430-2.
[show abstract][hide abstract] ABSTRACT: Aim of the study was to compare prevalence of sleep disturbances in patients with Parkinson's disease (PD) and in subjects with ischaemic stroke of the right cerebral hemispher and to estimate an effect of daytime sleepiness on sustained attention in patients with PD.
Forty eight patients with PD were included. The mean age was 65.9 (44-80) years, mean disease duration and mean Hoehn and Yahr Staging Scale were 6.6 (0.8-18) years and 2.5 (1.0-4.0), respectively. Control group consists of forty seven patients (mean age 66.2 years) with ischaemic stroke of the right cerebral hemisphere, without any language problems (mean Rankin Scale: 2.0). Both, PD and control patients were evaluated with: Parkinson's Disease Sleep Scale (PDSS), Epworth Sleepiness Scale (ESS) and Beck Depression Inventory (BDI). PD patients were also assessed with Visual Continuous Attention Test (DAUF).
PD patients obtained significantly lower (p < 0.05) scores on PDSS and significantly higher (p < 0.01) scores on ESS than patients with stroke. There were no significant differences within PD and control subjects on BDI. On the basis of ESS results PD patients were divided into two subgroups: PD1--patients with daytime sleepiness (ESS score > 10.0) and PD2--patients without daytime sleepiness. PD1 patients obtained significantly worse scores than PD2 ones on DAUF (significantly decreased number of correct reactions: p < 0.05 and significantly increased number of incorrect reactions: p < 0.05).
Nighttime sleep disturbances and daytime sleepiness are more pronounced in PD patients than in subjects with ischaemic stroke of the right cerebral hemisphere. PD subjects with daytime sleepiness show disturbances in the sustained attention.
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 02/2008; 24(140):109-12.
[show abstract][hide abstract] ABSTRACT: Primary central nervous system lymphoma (PCNSL) is rare neoplasm, affecting both immunocompetent and immunodeficient patients. It is usually seen as intracranial tumor, but it can often involve cerebrospinal meninges, eyeballs and spinal cord. Although PCNSL is sensitive both to radiotheraphy and chemotheraphy, it's recurrences are very frequent. Mean survival time does not exceed several months. We described a case of 43 year old patient with diagnosed PCNSL and discussed clinical signs, diagnostics and treatment of the neoplasm. In our case report we emphasized transient remission after treatment with corticosteroids, which delayed a correct diagnosis and worsened final prognosis.
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 01/2008; 24(139):30-3.
[show abstract][hide abstract] ABSTRACT: Sclerosis multiplex (SM) is characterized by multifocality of neurological changes and polyphasic course. The disease is caused by indefinite factors in the circumstances of genetically determined immune disorders. The aim of study. An attempt was made to identify otoneurological symptoms accompanying the early stage of sclerosis multiplex (SM). Material and research methods. 103 patients (diagnosed with uncharacteristic otoneurological symptoms, in further clinical observation defined as SM prodromes) were retrospectively examined. The following factors were taken into consideration: character and intensity of dizziness, results of static and dynamic tests, electronystagmography (ENG), caloric test, eye tracking and optokinetic nystagmus. Conclusion. Disorders of: vestibulospinal reflexes, eye tracking, optokinesis, time and regularity of caloric nystagmus occur in the very early stages of SM.
Otolaryngologia polska. The Polish otolaryngology 02/2007; 61(5):822-6.
[show abstract][hide abstract] ABSTRACT: Sclerosis multiplex (SM) is characterized by multifocality of neurological changes and polyphasic course. The disease is caused by indefinite factors in the circumstances of genetically determined immune disorders.
The aim of study
An attempt was made to identify otoneurological symptoms accompanying the early stage of sclerosis multiplex (SM).
Material and research methods
103 patients (diagnosed with uncharacteristic otoneurological symptoms, in further clinical observation defined as SM prodromes) were retrospectively examined. The following factors were taken into consideration: character and intensity of dizziness, results of static and dynamic tests, electronystagmography (ENG), caloric test, eye tracking and optokinetic nystagmus.
Disorders of: vestibulospinal reflexes, eye tracking, optokinesis, time and regularity of caloric nystagmus occur in the very early stages of SM.
Journal of Economic Theory - J ECON THEOR. 01/2007; 61(5):822-826.
[show abstract][hide abstract] ABSTRACT: 35-year old patient was admitted to the Department of Neurology, Medical University of Bialystok because of paresis of his left upper limb, progressing over last 10 months and right facial nerve paresis, which started a month ago. During neurological examination he presented with right facial and arm paresis, dysarthric speech, obesity and hypertension. The patient was previously hospitalized in regional hospital, where a lumbar puncture was done revealing normal composition of cerebrospinal fluid. His brain CT revealed bilateral hypodensive areas in frontal and parietal regions of vasogenic character. Doppler ultrasound showed significant slowing of blood flow velocity in both internal carotid arteries. Brain angiography presented with very weak contrast filling of intracranial branches of carotid and vertebral arteries and showed stenosis at the terminal portion of the internal carotid arteries and at the proximal portion of the anterior and middle cerebral arteries. The patient had transthoracic and transesophageal echocardiography, Holter ECG, lab tests (routine lab tests plus coagulation system evaluation with C protein resistance test, anticardiolipne antibodies, antinuclear antibodies, anticytoplasmatic antibodies and thyroid hormones) checked--all tests were within normal range. Based on cerebral angiography and clinical symptoms, after excluding any other reasons of cerebral ischemia, the patient was diagnosed with moyamoya disease and arterial hypertension. The patient was treated pharmacologically with improvement--regression of face assymetry and dysarthria and diminishing of his right arm paresis. The authors of this paper pay attention to moyamoya disease as a rare reason of ischemic strokes in the young in our geographic region. They remind moyamoya disease diagnostic criteria, its etiology and treatment.
[show abstract][hide abstract] ABSTRACT: The aim of the study was to examine effects of high doses of intravenous methylprednisolone (MP, 1 g daily, for 5 days) on the sustained attention and attention focusing in multiple sclerosis (MS) patients with clinical relapse.
Thirty four relapsing-remitting patients were included. The mean age was 39.4 (20-56) years, mean disease duration and mean Expanded Disability Status Scale scores were 6.6 (0.8-18) years and 4.1 (2.0-6.0), respectively. MS patients underwent psychological testing three times: before and immediately after MP treatment, and 6 months later. The trials: "100-7" and "months of year backwards", The Brickenkamp d2 test, and The Visual Continuous Attention Test (DAUF) were used. Thirty two control subjects (mean age 37.2 years) with ischialgia, not receiving steroids, underwent the same testing procedure two times: at admission and on 6th day of hospitalization.
Before and immediately after MP treatment MS patient obtained significantly worse scores than controls on the DAUF test (significantly decreased number of correct reactions (p<0.05), significantly increased number of incorrect reactions (p<0.05), and significantly increased mean value of reaction times (p<0.05)). There were no significant differences within MS and control subjects on other tests. Therapy with MP did not markedly change an ability to focus attention and keep the concentration over long period of time in MS patients.
MS subjects show disturbances in the sustained attention. Therapy with MP does not significantly change the sustained attention and attention focusing in MS patients.
Polski merkuriusz lekarski: organ Polskiego Towarzystwa Lekarskiego 02/2006; 20(115):65-8.