DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

BACKGROUND: Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family. METHODS: In the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD). RESULTS: Our sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed. CONCLUSION: Our results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.

Influence of physiotherapy on severity of motor symptoms and quality of life in patients with Parkinson disease.

BACKGROUND AND PURPOSE: Parkinson disease (PD) is one of the most frequent diseases of the central nervous system. Rehabilitation is one of the factors which may help the patients to maintain higher physical activity in everyday life. The aim of this work was to evaluate the influence of movement rehabilitation on severity of motor symptoms in PD patients. MATERIAL AND METHODS: The study included 70 patients suffering from PD according to the Hoehn and Yahr scale. Patients' clinical status was assessed with Unified Parkinson's Disease Rating Scale (UPDRS) parts I-III. Additionally, activity of daily living was evaluated with the Schwab and England scale. The quality of life was evaluated by the Parkinson's Disease Questionnaire (PDQ-39). The examinations were conducted before and after the twelve weeks of the experiment. Patients included in the intervention group (n = 40) took part in 60-minute rehabilitation exercises twice a week, which were aimed at increasing movement ranges, balance improvement, movement agility and walking. The main emphasis was placed on the ability to cope with daily activities. RESULTS: A significant difference in scores of given scales before and after the 12-week period was observed in the intervention group: UPDRS part I score decreased by 17.31%, part II decreased by 22.2%, part III decreased by 18.96%, and PDQ-39 score decreased by 17.12%. Mean score of the Schwab and England scale increased by 9.69%, indicating an improved quality of life. CONCLUSIONS: The applied rehabilitation programme decreased the severity of motor symptoms in patients with PD.

Death-associated protein kinase 1 variation and Parkinson's disease.

BACKGROUND AND PURPOSE: Mutations of the LRRK2 gene are now recognized as major risk factors for Parkinson's disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer's disease. METHODS: Herein, we assessed the role of DAPK1 variants (rs4877365 and rs4878104) in risk of Parkinson's disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson's disease, 344 controls) and five separate Caucasian series' (combined sample size 1962 Parkinson's disease patients, 1900 controls). RESULTS: We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson's disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model. CONCLUSION: These specific DAPK1 intronic variants do not increase the risk of Parkinson's disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins.

Calbindin-1 association and Parkinson's disease.

BACKGROUND AND PURPOSE: Calcium levels have been proposed to play an important role in the selective vulnerability of nigrostriatal dopaminergic neurons in Parkinson's disease (PD). Recently, an association was reported between the calcium buffer, calbindin (rs1805874) and risk of PD in a Japanese patient-control series. METHODS: We genotyped rs1805874 in four independent Caucasian patient-control series (1543 PD patients, 1771 controls). RESULTS: There was no evidence of an association between rs1805874 and disease risk in individual populations or in the combined series (odds ratio: 1.04, 95% CI: 0.82-1.31, P = 0.74). DISCUSSION: Our study shows there is no association between rs1805874 and risk for PD in four Caucasian populations. This suggests the effect of calbindin on PD risk displays population specificity.

Intravenous recombinant tissue plasminogen activator for acute stroke in Poland: an analysis based on the Safe Implementation of Thrombolysis in Stroke (SITS) Registry.

OBJECTIVES: Intravenous thrombolysis was conditionally approved in the European Union (EU) in 2002, under the requirement of entering all patients into Safe Implementation of Thrombolysis in Stroke - Monitoring Study (SITS-MOST). Countries not belonging to the EU by 2002, i.e. Poland were invited to enter data into the SITS International Stroke Thrombolysis Registry (SITS-ISTR). The aim of this study is to compare the safety and efficacy of thrombolysis in the Polish SITS-ISTR stroke patient population with patients registered in SITS-MOST. METHODS: 481 patients in Poland were reported between 2003 and 2007. Baseline and outcome data of Polish patients were compared with SITS-MOST. RESULTS: Most of the baseline characteristics did not differ between the groups. The most important was the onset-to-needle and door-to-needle times were significantly longer in Polish patients, 150 vs 136 min and 82 vs 68 min, respectively (P < 0.001). The symptomatic intracranial haemorrhage and independence rates at 3 months were similar in both populations. Polish patients had a significantly higher 3-month mortality rate, 18.6% vs 11.3% (P < 0.001). CONCLUSIONS: Because of higher mortality the study implies the need to improve the organization of thrombolysis services and provides the rationale to continue the monitoring of treatment in Poland.

GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease.

BACKGROUND AND PURPOSE: A single nucleotide polymorphism in the 3'-untranslated region of the progranulin gene (GRN; 3'UTR+78C>T; rs5848) was reported to alter the risk for frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). rs5848 is located within a micro-RNA binding site and affects the expression of GRN. METHODS: As FTLD-U patients often present with parkinsonism, we investigated the association of GRN rs5848 and risk of Parkinson's disease in two Caucasian patient-control series (n = 1413) from the US and Poland. RESULTS: No association was observed between rs5848 and susceptibility to Parkinson's disease (individual series and combined analysis). CONCLUSIONS: This finding shows that GRN rs5848 does not affect the risk of Parkinson's disease in the US and Polish populations.

Interleukin-10 (IL10) and tumor necrosis factor alpha (TNF) gene polymorphisms in Parkinson's disease patients.

Recent studies revealed that inflammatory processes might play an important role in the pathogenesis of Parkinson's disease (PD). We hypothesized that genetically determined differences in the immune response, especially in anti- and pro-inflammatory cytokines production might influence the risk for the development and/or onset of sporadic PD. In the present study, we investigated the genetic polymorphisms of the IL10 (-1082 and -519) and TNF (-308) genes in relation to the risk of PD, and their associations with age of PD onset in a group of 316 patients, divided into two subgroups: Group 1: patients with early onset PD (EOPD), i.e. before 50 years of age (102 patients), and group 2: patients with onset of PD after 50 years of age comprising 214 subjects. Control samples were obtained from 300 randomly selected healthy individuals from the same geographical region with no signs of Parkinsonism as evaluated by a neurologist. PCR-RFLP methods were used for genotyping. No statistically significant differences between PD patients and controls were found in the frequency of a single locus of IL10 promoter. We found TNF -308A allele significantly more frequent in EOPD patients compared to the controls (p=0.007). The overrepresentation of the A allele was reflected by a significant increase in AA homozygous individuals in EOPD patients compared to the controls (p=0.0021). The results from our study revealed that the TNF -308AA genotype might increase the risk of early onset of PD.

Polymorphisms of catechol-0-methyltransferase (COMT), monoamine oxidase B (MAOB), N-acetyltransferase 2 (NAT2) and cytochrome P450 2D6 (CYP2D6) gene in patients with early onset of Parkinson's disease.

The aim of the present study was to evaluate the contribution of MAOB, COMT, NAT2 and CYP2D6 gene polymorphisms to early onset Parkinson's disease (PD). The study enrolled 134 patients with Parkinson's disease (early onset-EOPD--67 patients, and late onset--LOPD--patients), and 66 healthy individuals. Polymerane chain reaction restriction fragment length polymorphism (PCR-RFLP) methods were used for genotyping. Univariate analysis revealed a significant two-fold higher EOPD risk among carriers of MAOB allele A or AA genotype. Multivariate analysis revealed that MAOB allele A was an independent factor predisposing to EOPD. It was shown that neither NAT2, CYP2D6 nor COMT genotype was associated with PD.

[Clinical significance of a vascular loop in the internal carotid artery]. / Znaczenie kliniczne petli naczyniowej w przebiegu tetnicy szyjnej wewnetrznej.

In a group of 99 patients with unilateral or bilateral carotid artery loop the data in case records were analysed. In 11 cases no abnormalities were found, apart from the presence of carotid loop, that could be related to the presence of symptoms of cerebrovascular insufficiency observed in them. In 7 of them these symptoms appeared before the age of 40 years. Frequently, the appearance of symptoms was preceded by headaches and 6 patients had episodes of transient cerebral ischaemia. On lateral angiograms during lateral rotation of the head in 9 cases kinking of the arterial wall was seen which had been not observed in the anteroposterior projection. It is thought that in a small group of patients carotid loop may be the cause of cerebrovascular failure.

[Etiology, occurrence and types of the internal carotid artery loop]. / Etiologia, czestosc wystepowania i typy uksztaltowania petli naczynio-wej w przebiegu tetnicy szyjnej wewnetrznej.

Internal carotid loop was studied in 99 patients out of 1638 cases subjected to angiography. The presence of a loop was arbitrarily accepted when in the tortuous part of the artery one of its segments was situated below the preceding segment. For the spatial analysis of the tortuous part of the artery and its image in the plane of the radiogram a model was used simulating various variants of the course of the internal carotid artery. On the ground of the analysis of the spatial configuration of the arterial loops and the variability of the loop model in the plane of the radiogram six types of the loop were isolated. The loops were found in 9.2% of patients with bilateral angiography and 5.7% of those with unilateral angiography. In adults the loop was present in 5.4% of cases, and in children in 8.9% (statistically significant difference p less than 0.05). It is assumed that the loop in children is a congenital anomaly, while in adulthood besides the congenital etiology an acquired form of the loop is to be taken into account.

[Mortality in vascular diseases of the central nervous in the Katowice province in comparison with other provinces and all Poland (evaluation based on hospital statistical charts)]. / Czestosc zgonów z powodu chorób naczyniowych osrodkowego ukladu nerwowego w województwie katowickim w porównaniu z innymi województwami i cala Polska (ocena na podstawie szpitalnych kart statystycznych).

As part of the programme of investigations on the effect of environmental pollution, which is far advanced in the Upper Silesian Industrial Region, on the health of the population the authors analysed the death rate from vascular diseases of the central nervous system. Using the data of the Central Statistical Bureau this death rate in the years 1976-1986 in the Province of Katowice was compared with those in the neighbouring provinces of Bielsko, Czestochowa and Opole, and with those in the so called clean provinces--Chelm, Zamosc, Zielona Góra. The death rate from these diseases in the provinces of Katowice, Czestochowa and Opole (with particularly high pollution of air and soil) was higher than in the control provinces, and the authors consider the possibility of a harmful effect of this pollution on the incidence of and mortality from the vascular diseases of the central nervous system. The increase of the death rate in the Province of Katowice was due to a 49% rise in the mortality in the group of men aged 50-59 years. The rise of this death rate in Poland was caused by increased mortality in the age group 40-59 years, and not in the older age groups, as it had been prognosticated earlier. The authors suggest long-term prospective studies in this region.

[Eales disease and multiple sclerosis. Case report]. / Choroba Ealesa a stwardniene rozsiane--opis przypadku.

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 presence of a common causative factor and pathological mechanism of the development of clinical changes.

[Stroke in the records of the Department of Neurology, Silesian Medical Academy in Katowice and Zabre as well as the Neurology Department of the 8th Municipal Hospital in Katowice in the years 1970-1974]. / Udary naczyniowe mózgu w materiale kliniki Neurologicznej Slaskiej AM w Katowicach i Zabrzu oraz Oddzialu Neurologicznego Szpitala Miejskiego nr 8 w Katowicach w latach 1970-1974.

The authors analysed the clinical material of acute vascular diseases of the central nervous system treated at the Department of Neurology, Silesian Medical Academy and Neurological Department of the 8th Municipal Hospital providing in the years 1970-1974 medical care for the population of two greatest cities of the Upper Silesian Industrial Region in cases of sudden neurological diseases. Cerebrovascular strokes accounted for 14.7% of all hospitalized cases. The mean annual index of admissions for these departments was 52.5 per 100 000 population. Cerebral haemorrhages were diagnosed in 28% strokes, they were somewhat more frequent in women, especially in oldest age. Subarachnoideal haemorrhages were observed in 9.3% of strokes, more frequently in the age range from 41 to 60 years, and more frequently in middle aged men. Thrombotic brain softening accounted for 37.1% of cases, more frequently in men aged 51-70 years. Similarly, transient cerebral ischemia recognized in 13.9% of cases was more frequent in men. On the other hand, cerebral arterial embolism diagnosed in 11.7% of cases occurred usually in women aged over 60 years. In March and April the number of patients admitted with cerebral haemorrhages was slightly higher, while in April, May and June cases of thrombotic encephalomalacia were more frequent.

[Statistical analysis of mortality from stroke in hospitalized patients]. / Analiza statystyczna smiertelnosci chorych hospitalizowanych z powodu udarów naczyniowych mózgu.

The authors analysed mortality from brain strokes in 1366 patients hospitalized at the Department of Neurology, Silesian Medical Academy in Katowice and Zabrze and in the 8th Municipal Hospital in Katowice in the years 1970--1974. The number of cases with lethal outcome was 437. The mortality was highest in cases of cerebral haemorrhages, particularly in women. The mortality increased with increasing age and was highest in the first 24 hours of treatment.

[Misleading CT image in a case of giant cerebral aneurysm]. / Mylacy obraz CT w przypadku olbrzymiego tetniaka mózgu.

A giant intracranial aneurysm is described in a woman aged 70. CT image suggested an expanding lesion.

[Burden of caregivers caring for persons with dementia]. / Obciazenie opiekunów osób z otepieniem.

Alzheimer's disease (AD) and other dementias are common disorders in the elderly. Most AD patients are cared for at home by family members. Caregiving stress often leads to problems in care givers' mental and physical health. Certain factors predict caregivers' distress, such as the presence of patient behavioral problems, the nature of the caregivers' social support and ability to cope with difficult situations. The term "caregiver burden" is used to refer to the physical, psychological or emotional, social and financial problems that can be experienced by family members caring for impaired older adults.

[The role of carnitine in human lipid metabolism]. / Rola karnityny w przemianie lipidowej u czlowieka.

Carnitine is an important nutrient that is present in diet (particularly in meat and dairy products) and is synthesized from amino acids. Carnitine has two principal functions in the organism. One is to transport long-chain fatty acids into the mitochondrion. The second function of carnitine is to regulate the intramitochondrial ratio of acylocoenzyme A to free coenzyme A. This function is important because it allows to remove excessive (and potentially toxic) short- and medium-chain fatty acids from the mitochondrion, and because it maintains sufficient free coenzyme A within the mitochondrion to support energy metabolism.

[Diagnostic problems in the case of dementia with coexisting hematological disorders]. / Trudnosci diagnostyczne w przypadku otepienia ze wspólistniejacymi zaburzeniami hematologicznymi.

The case report presents a 61-year-old female patient with profound dementia and coexisting hematological disorders suggesting Addison-Biermer's disease. Two possible diagnoses were considered; dementia of Alzheimer type or dementia secondary to pernicious anaemia. This case report reflects diagnostic difficulties concerning dementia syndrome in the presence of other causative factors.

Neck duplex Doppler ultrasound evaluation for assessing chronic cerebrospinal venous insufficiency in multiple sclerosis patients.

INTRODUCTION: Recent clinical studies have suggested a relationship between multiple sclerosis (MS) and the occurrence of pathological changes in the jugular, vertebral and azygous veins that result in abnormal blood outflow from the brain and the spinal cord. Together, these pathological changes have been designated chronic cerebrospinal venous insufficiency (CCSVI). The aim of the present study was to evaluate the usefulness of duplex Doppler ultrasound in the evaluation of central nervous system venous outflow disturbances in patients suffering from MS. METHODS: We examined 181 patients with MS, diagnosed on the basis of the McDonald criteria, and 50 healthy volunteer controls. All patients underwent Doppler ultrasound examination of the internal jugular veins (IJV) and vertebral veins (VVs). The presence of outflow disturbances and morphological abnormalities were evaluated. RESULTS: Pathological changes in the extracranial jugular veins were diagnosed in 148/181 MS patients (82%) and 7/50 control group volunteers (14%). The following abnormalities in the MS group were revealed: the presence of a reflux in the IJVs and/or VVs (54%), narrowing (54%), a complete block in the flow through the IJV (10%) and an abnormal postural control of the cerebral outflow route (25%). These particular pathologies were of statistical significance in the MS group compared with the control group. This study also revealed a correlation between the occurrence of inverted flow in patients in a sitting position and chronic progressive MS (P = 0.0033). CONCLUSIONS: The examinations undertaken indicate a possible connection between MS and CCSVI. The widely accessible and highly sensitive and specific Doppler ultrasound test may be useful for revealing, and preliminary analysis of, CCSVI pathologies.

Intravenous thrombolysis in acute ischemic stroke after POLKARD: one center analysis of program impact on clinical practice.

PURPOSE: Intravenous thrombolysis in the acute ischemic stroke was initiated in Poland within the National Cardiovascular Disease Prevention and Treatment Program POLKARD in the years 2003-2008. Since 2009 the procedure has been reimbursed by the National Health Fund (Narodowy Fundusz Zdrowia - NFZ). The purpose of the presented study was to assess whether the change of financing institution was associated with the change in proportion of patients treated and with any of the clinical parameters or stroke outcomes. PATIENTS AND METHODS: We reviewed the data of the 90 consecutive patients with acute ischemic stroke treated with intravenous thrombolysis within 3-hours from symptoms onset. The differences between the POLKARD period and the year 2009, regarding clinical parameters, time delays, death rates and functional outcomes on day 90 after the stroke were analyzed. The association of outcome measures with baseline characteristics of the patients was analyzed with binary logistic regression. RESULTS: In 2009 there was a significant increase in the proportion of patients treated (7.6%, 95%CI 5.3-10.7%, vs. 4.3%, 95%CI 3.3-5.5% respectively, p=0.013). There were no differences in age, baseline neurological presentation, prevalence of stoke risk factors, treatment time delays or hemorrhagic complications. Higher, but not significantly, 90-day mortality was observed (32.1%, 95%CI 13.3-54.1% vs. 16.1%, 95%CI 6.4-29.7% respectively, p=0.101). Baseline neurological deficits and in-hospital treatment time delays were significant predictors of disability and death. CONCLUSIONS: After the Polish Ministry of Health program POLKARD termination and elimination of the reimbursement limits, higher proportion of ischemic stroke patients could be treated with the intravenous thrombolysis.