Search PubMed⌕ Search

Biomedical subjects

J Kulczycki

Publications and source records attributed to J Kulczycki.

At least 19 recordsLinked to original sources
PubMed2001

Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.

Polymorphism at codon 129 of the prion protein gene (PRNP) is implicated both in susceptibility and phenotype of human prion diseases. We characterized the valine and methionine allele frequency at codon 129 in 109 individuals representing the normal Polish population and in 15 Polish CJD cases. The distribution of the genotype was 45% Met/Met, 39% Met/Val, and 16% Val/Val in the control group whereas, of the CJD cases, 73.3% were homozygous for methionine, 13.3% homozygous for valine and 13.3% were heterozygous. The novel missense mutation (ATG-->ACG) at codon 232 was identified in one of the samples with a GSS phenotype.

Amino Acid Substitution↗
PubMed2001

[Creutzfeldt-Jakob disease: the most frequent spongiform encephalopathy in humans].

Creutzfeldt-Jakob disease (CJD) which for many years was interpreted as one of degenerative brain processes is the most frequent spongiform encephalopathy caused by prions--molecules of erroneously conformed protein. In only few percent ill people occurrence of this pathogenic factor occurs as a result of mutation in gene PrP. Because transmissibility of prions was proved it should be supposed that in other cases CJD is a result of "infection" Susceptibility to prions depends in large part on specificity of host proteins. It creates certain individual and species specific barriers. At the present time we witness, fortunately only in single cases, occurrence in people variant CJD caused by prions originated from animals affected by "mad cow disease". Prognosis for human population is dependent on the effectiveness of between species barrier for prions.

Adult↗
PubMed2001

Report on the first polish case of the Gerstmann-Sträussler-Scheinker syndrome.

In the course of epidemiological studies on Creutzfeldt-Jakob Disease in Poland, the authors found a male patient aged 54 years with dementia rapidly progressing for a year and ataxia of the extremities. EEG tracings were abnormal but without features typical of CJD. About six months after hospitalisation the patient died. Neuropathological examination of his brain demonstrated spongiform lesions of medium intensity present mainly in the cortex of frontal and occipital lobes, with slight proliferation of astroglia. In the cerebellar cortex numerous deposits of PAS-positive substance amorphous or in the shape of kuru plaques were disclosed. A smaller number of these plaques were found in the cortex of occipital and temporal lobes, and in the putamen. All deposits stained strongly with monoclonal 3F4 antibody to human prion protein (PrP). Genetic studies disclosed in the 20th chromosome, in the PrP gene, mutation at codon 102 (P102L). Codon 129 was homozygous for methionine (M129M). It was established, moreover, that patient's father had at the same age a similar disease and died after one year and patient's sister died after a six-year-long neurological disease diagnosed as multiple sclerosis. On the basis of clinical, genetic and neuropathological findings the authors diagnosed the Gerstmann-Sträussler-Scheinker syndrome, a familial prion disease with autosomal dominant character. This is the first report on this syndrome in Poland.

Brain↗
PubMed2001

Epidemiological studies on Creutzfeldt-Jakob disease in Poland.

The epidemiological, clinical and neuropathological study of Creutzfeldt-Jakob disease (CJD) in Poland was established in 1996. It was preceded by wide, repeated informative action among neurologists and psychiatrists in the whole country. The investigations were partially sponsored by the European Commission (E.C.) as part of the programme Biomed 1. The results obtained by us during the first three years of the study are presented in this paper. In 1996-1998 over 60 probable or possible cases of CJD (or information about them) were referred to our Institute. Neuropathologically typical changes for spongiform encephalopathy were found in 28 cases (among them four cases in laboratories of Medical Schools in Szczecin and Poznań). Neuropathological evaluation was based on paraffin slices stained by H-E, PAS, Bielschowsky, Kanzler-Arendt and Klüver-Barrera methods. In certain cases antibody 3F4 was used. In three patients only clinically probable CJD were diagnosed, since neuropathology was not done. In twenty-five persons, a detailed inquiry form was filled in after the model indicated by the E.C. As the result of processing the whole material, we diagnosed in twenty-four patients a sporadic form of CJD. The remaining case belonged to a family with Gerstmann-Sträussler-Scheinker syndrome. In sporadic CJD cases examined and observed by us no exogenic risk factors for the disease could be detected.

Adult↗
PubMed2000

Motor evoked potential studies in Creutzfeldt-Jakob disease.

OBJECTIVES: Motor evoked potentials (MEPs) were recorded in 7 cases of Creutzfeldt-Jakob disease (CJD) to asses the involvement of pyramidal motor pathways in these cases. The diagnosis of CJD was confirmed by autopsy in 5 cases and based on clinical data in two cases. METHODS: Transcranial (MEP-cortex), root magnetic (MEP-root) and electrical stimulation of peripheral nerves (F-wave, direct M-response) were performed. The cortical excitability threshold, F-wave frequency, MEP amplitudes, peripheral motor conduction velocity, standardized distal latencies and central, root, and F-wave conduction times were evaluated. RESULTS: The results of MEP testing were markedly abnormal. Cortical excitability thresholds were elevated, MEP amplitudes were reduced while the conduction function was rather preserved. The features of functional disturbances and/or loss of upper and lower motor neurons were revealed. They correlated with the advancement of key clinical CJD symptoms (progressive dementia, extrapyramidal and cerebellar signs, myoclonic jerks, mutism and typical periodic EEG changes), while motor lesion signs might only be slight or absent. CONCLUSIONS: Conduction slowing, if present, seemed to be secondary to axonal lesion.

Adult↗
PubMed2000

Amyotrophic form of Creutzfeldt-Jakob disease with rapid course in 82-year-old man.

The authors present a case of Creutzfeldt-Jakob disease in 82-year-old man. Besides the onset of the disease in the elderly and short survival time (8 weeks), other uncommon clinical and morphological features also characterized our case. An evident amyotrophic syndrome, confirmed in morphological findings, developed soon after the CJD onset. The spongiform change also observed within the white matter of cerebral hemispheres allowed us to diagnose the 'panencephalopathic' form of CJD.

Aged↗
PubMed1999

Central nervous system infection caused by Borrelia burgdorferi. Clinico-pathological correlation of three post-mortem cases.

The spirochete Borrelia burgdorferi (B. burgdorferi) may cause severe meningoencephalomyelitis as the sole manifestation of Lyme borreliosis. We would like to present three such cases, where definite neuroborreliosis was clinically diagnosed in two cases and possible neuroborreliosis was recognized in one case. Alive spirochetes were isolated and cultured from blood and cerebrospinal fluid (CSF) in both definite cases. B. burgdorferi as the causative agent of the infection was confirmed in CSF by polymerase chain reaction (PCR) in one definite case. In the possible case spirochetes were cultured from blood and CSF. Alive spirochetes were not isolated, however anti-B. burgdorferi antibody value in serum was significantly elevated. On necropsy gross examination brain edema without focal changes was detected in two cases. Cerebral atrophy was seen in Case 3. Microscopically, lymphocytic infiltrates, microglial diffuse and nodular activation, spongiform changes, diffuse demyelination of the cerebral and cerebellar white matter, and diffuse astrocytosis, were characteristic pathological features in all presented cases. Multifocal, perivascular degenerative changes in the cerebral and cerebellar white matter were observed in the first case. Inflammatory changes in the nuclei and roots of cranial nerves were present in the third case.

Adult↗
PubMed1999

[Early diagnosis of Alzheimer's disease by neuroimaging methods].

Visual examinations of the brain, MRI in particular, are very important but always only auxiliary methods in the diagnosis of Alzheimer's disease. Since several years the results obtained in them could have been confirmed objectively by introduction of various methods for measurement of cerebral structures undergoing atrophy. The development of functional MRI programmes, particularly those of regional blood flow in capillaries, has helped in detection of early Alzheimer lesions. The main difficulty in these diagnostic methods is the continuum of lesions resulting from physiological senescence and those being pathological atrophy of Alzheimer type.

Age Factors↗
PubMed1999

Microglia and neuritic plaques in familial Alzheimer's disease induced by a new mutation of presenilin-1 gene. An ultrastructural study.

The results of the ultrastructural study of the brains of two sisters with familial Alzheimer's disease (AD) induced by a new mutation of presenilin-1 (PS-1) gene who died at the young age (35 and 37 years) are presented. In both cases, the changes typical of AD with particularly large number of neuritic plaques (NPs) were found. Microglial cells were located between amyloid core and neurites. At the ultrastructural level, the content of microglial cytoplasm was differentiated (amyloid fibrils or/and phagocytic bodies). This may suggest that microglial cells participate in forming of amyloid fibrils and/or phagocytosis of amyloid.

Adult↗
PubMed1999

Molecular analysis of PRNP gene in Polish population and in Creutzfeldt-Jakob disease.

In our study we have examined allelic variation of codon 129 among the Polish population as well as Polish and Dutch CJD cases. The open reading frame of the PrP gene was amplified using the polymerase chain reaction (PCR). PCR product was digested with Nsp I and Mae II endonucleases and separated by 2% agarose gel electrophoresis and, finally, sequenced by the Sanger dideoxy-mediated chain-termination method. To obtain population data we have screened 109 unrelated Polish adults. There were 45% of methionine homozygotes, 16% of valine homozygotes and 3% of heterozygotes. Among Polish CJD cases, 75% were methionine homozygous, 12.5% were valine homozygous and 12.5% were heterozygous, whereas among Dutch CJD cases it was 29% of Met/Met and 71% of Met/Val genotypes.

Adult↗
PubMed1998

A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.

The majority of early-onset familial Alzheimer's disease (FAD) is associated with mutations in the presenilin-1 (PS1) gene. We describe a novel Polish PS1 mutation of Pro117Leu, associated with the earliest average age of onset and death so far reported in a PS-linked, FAD kindred. Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. There was a significant increase in the amyloid beta42/40 ratio in the N2a P117L PS1 transfected cells compared with N2a transfected with wild-type PS1. What role PS has in the pathogenesis of AD remains to be determined, however, the severity of the clinical picture associated with this PS1 mutation stresses the importance of presenilin.

Adult↗
PubMed1998

Cell-type-specific enhancement of amyloid-beta deposition in a novel presenilin-1 mutation (P117L).

The presenilin-1 (PS1) gene mutation (Pro117Leu), recently identified in a Polish family is characterized by the earliest reported onset (from 24-31 years) of Alzheimer disease (AD) and a very short duration of disease (4-6 years). The neuropathology of 2 subjects with this PS1 mutation (ages at death: 35 and 37 years) was compared to four Down syndrome (DS) patients (mean age at death: 62 years) and 4 sporadic AD patients (mean age at death: 79 years with a mean duration of disease of 18 years). The Polish familial AD (FAD) patients showed a marked increase in the amyloid burden of 2 6-fold in most areas of the brain. The entorhinal cortex was an exception where the amyloid burden was similar in each category of patient. Some brain regions of the Polish FAD patients showed a massive increase of amyloid, such as the molecular layer of the cerebellum where a 7- and 25-fold increase was noted, compared with DS and sporadic AD patients respectively. The cerebellar vessel amyloid burden was also greatly increased in the FAD patients, reflecting a vascular compartment specific increase of amyloid beta deposition. The presence of this PS1 mutation has an even greater effect on both vascular and parenchymal amyloid deposition, than the overexpression of the amyloid beta precursor protein present in DS patients, suggesting that PS mutations can be a critical factor determining amyloid deposition.

Adult↗
PubMed1998

The history of studies on subacute sclerosing panencephalitis in Poland.

The main trends are described in the studies of subacute sclerosing panencephalitis conducted in Poland or abroad with participation of Polish scientists. The history of these studies began in the years 1957-1959 with the works of Wender and Osetowska and ends presently at the end of our century with extinction of SSPE as a result of consistently conducted obligatory vaccinations against measles. The studies of Polish authors involved the problems of clinical diagnosis using immunological, electrophysiological and neurological imaging methods. Neuropathological problems were also studied extensively. Parallely with similar studies in the foremost foreign centres trials of SSPE treatment were undertaken in Poland, in recent years by means of intracerebroventricular administration of interferons. An original Polish method was the treatment with inducers of endogenous interferons. After the introduction of vaccinations against measles epidemiological studies repeated in the whole country were introduced for the assessment of the results of this preventive measure. These studies are regarded as model ones at international level.

Adolescent↗
PubMed1997

Increased levels of interleukin-1beta and soluble intercellular adhesion molecule-1 in cerebrospinal fluid of patients with subacute sclerosing panencephalitis.

Proinflammatory cytokines (interleukin [IL]-1beta, tumor necrosis factor [TNF]-alpha, and IL-6) and soluble intercellular adhesion molecule-1 (sICAM-1) were measured in paired cerebrospinal fluid (CSF) and serum samples from patients with subacute sclerosing panencephalitis (SSPE), multiple sclerosis (MS), or other neurologic diseases (OND) by ELISA. IL-1beta was significantly increased in CSF of the SSPE group compared with levels in the MS or OND group. IL-1beta CSF/serum ratios were higher in the SSPE than in the MS or OND group. TNF-alpha and IL-6 levels were similar in the 3 groups. CSF sICAM-1 was higher in the SSPE group than in the MS or OND group. sICAM-1 CSF/serum ratios were higher in the SSPE than the OND group. The increased CSF/serum ratios of IL-1beta and sICAM-1 in SSPE indicate synthesis of IL-1beta and sICAM-1 in the central nervous system and may be important in the pathogenesis of disease.

Adolescent↗
PubMed1997

Intrathecal production of measles-specific IgA in subacute sclerosing panencephalitis.

OBJECTIVE: We measured measles-specific IgA in matched pairs of cerebrospinal fluid (CSF) and sera of patients with subacute sclerosing panencephalitis (SSPE), multiple sclerosis (MS), other central nervous system (CNS) infectious diseases (INF) and other neurological diseases (OND) by using enzyme linked immunosorbent assay. MATERIALS AND METHODS: CSF and sera from 23 patients with SSPE, 15 with MS, 14 with INF, and 15 with OND were included in the study. RESULTS: The ratios of measles-specific IgA in CSF to serum were increased in SSPE patients compared to patients with MS, INF or OND. CONCLUSION: The data indicate a local production of measles-specific IgA in the CNS of SSPE patients.

Adolescent↗
PubMed1997

[Subacute sclerosing panencephalitis (SSPE) in Poland in the years 1993-1995. The sixth stage of epidemiological research].

Data was collected about 49 newly diagnosed cases of SSPE in the years 1993-1995 in Poland. In the analyzed period of time a falling of tendency the incidence of SSPE was maintained. Overall incidence--0.42 per million population, was lower than the incidence in years 1990-1992, when it was 0.72. The tendency of a shift towards older age group was maintained--the peak incidence was observed among 19 year olds, as opposed to 15 year olds in the previous analyzed time period. The authors explain the dropping SSPE incidence in Poland with a drop in measales incidence, which is a consequence of growing measles vaccine coverage rates. The influence of a big measles epidemic which occurred in 1989-1990 on a potential rise in number of SSPE cases has not been noted, but further observations are needed.

Adolescent↗
PubMed1997

Multiple system atrophy.

Multiple system atrophy (MSA) is a degenerative disease of the central nervous system with three components, usually variously expressed: nigrostriatal degeneration (NSD), olivopontocerebellar atrophy (OPCA) and Shy-Drager syndrome of autonomic system dysfunction (SDS). The clinical progression of MSA leads to death in a shorter time than in any of the components occurring separately. A common, and according to some authors, pathognomonic neuropathological finding in MSA cases is the presence of argyrophilic inclusions in the cytoplasm of glial cells, mainly oligodendrocytes, in the structures of the encephalon with most pronounced atrophic changes.

Disease Progression↗