PubMed Health⌕ Search

Biomedical subjects

J Kulczycki

Publications and source records attributed to J Kulczycki.

At least 19 recordsLinked to original sources
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↗
PubMed1996

The effects of early postnatal stimulation on Morris water-maze acquisition in adult mice: genetic and maternal factors.

Following stressor exposure BALB/cByJ mice exhibit hypersecretion of corticosterone and marked brain catecholamine alterations. In addition, mice of this strain exhibit impairments of performance in a Morris water-maze, which may be exacerbated by footshock application. In the present investigation it was demonstrated that early-life handling of mouse pups (coupled with brief separation periods from the dam over the course of 21 days postpartum) reduced the learning impairments seen when mice were tested in the Morris water-maze at 120 days of age and also prevented stress-induced disturbances in this task. Likewise, cross-fostering BALB/cByJ mice with a C57BL/6ByJ dam prevented the performance deficits. In contrast, C57BL/6ByJ mice cross-fostered to a BALB/cByJ dam exhibited proficient performance. Thus, maternal factors may be important in determining the Morris water-maze disturbances, provided that this was applied on the BALB/cByJ genetic background. Stressor exposure exacerbated the performance disturbances in BALB/cByJ mice, while diazepam treatment disrupted Morris water-maze performance in both BALB/cByJ and C57BL/6ByJ mice. Paralleling the behavioral changes associated with handling, the stress-induced hypercorticosterone secretion characteristic of the BALB/cByJ mouse was attenuated by the early handling procedure. Stressor exposure also produced strain-dependent variations of NE and 5-HT, but these effects were not appreciably influenced by the handling procedure. These data are consistent with the proposition that performance disturbances of BALB/cByJ mice tested in the Morris water-maze task are associated with excessive hypothalamic-pituitary-adrenal reactivity. Moreover, it appears that the influence of early-life stimulation may interact with genetic factors in determining endocrine and behavioral stress responses.

Analysis of Variance↗
PubMed1996

Adult schizophrenic-like variant of adrenoleukodystrophy.

A 35-year-old man died after 30 months following the onset of the disease. There was a history of changes in his mental condition, including disturbances of behavior as well as the evidence of progressing dementia. The patient revealed gait disturbances and finally became bed ridden. Bizarre behavior and changes of mood with concurrent growing irritability which predominated during the course of disease, may explain the initial diagnosis of schizophrenia. Then cerebellar and spastic movement disorders leading to paraparesis and sphincters disturbances developed. Clinical symptoms of adrenal failure were not found apart from episodes of arterial pressure fall. After two years a magnetic resonance imaging (MRI) revealed an extensive diffuse demyelinative process in white matter of cerebral and cerebellar hemispheres. Activity of lysosomal enzymes was normal. A general autopsy revealed atrophy of adrenal cortex and the presence of ballooned cells with striated cytoplasm in the reticular and fasciculate zones. Neuropathological examination revealed an extensive demyelination of white matter in cerebral and cerebellar hemispheres and of the long paths of the brain stem, corresponding to changes in MRI examination. Within demyelination areas damage of axons and diffuse cellular and fibrous gliosis were found as well as perivascular lymphocytic infiltrations with the presence of strong PAS (+) and Sudan (+) macrophages. Immunocytochemical reactions with HAM-56 and RCA1 in macrophages were positive. Electron microscopy examination revealed lamellar inclusions in cytoplasm of macrophages. Similar structures were present in the lysosomes of astrocytes. Morphological examination of adrenal glands as well as morphological and ultrastructural study of the brain allowed us to diagnose the cerebral form of adrenoleukodystrophy (ALD). Topography and character of the brain changes seems to be in keeping with a rare schizophrenic-like variant of ALD with progressive dementia. Abnormal plasma profile and increased VLCFA concentration in the patient's 13-year-old daughter confirm the ALD diagnosis.

Adrenoleukodystrophy↗
PubMed1995

[Subacute sclerosing panencephalitis in Poland in the years 1990-1993. Stage V of epidemiologic studies].

The authors summarize the results of the fifth stage of epidemiological investigation on SSPE. The first stage covered the years 1971-1976, the next stages covered the periods: 1977-1983; 1984-1986; 1987-1989. In the period 1990-1993 data on 95 patients with SSPE were obtained. Morbidity rates continued to show a decreasing tendency (from 0.8 to 0.6 per 1,000,000 population) in the years 1990-1993, being lower the median morbidity (amounting to 0.98) in 1985-1989. Morbidity rates continued to shift towards older age groups: while the peak morbidity (25.7%) in the years 1990-1992 was noted in the 14-15 age range, in 1993 the peak (28.6%) was found in the age group of 16 to 19 years.

Adolescent↗
PubMed1995

Primitive neuroectodermal tumor (PNET). A case report.

The authors present a case of relatively rare tumor of the central nervous system (CNS) in a 19-year-old female, who died 18 months after the first manifestation of meningismus, increased intracranial pressure and secondary hydrocephalus. Brain autopsy revealed abundant neoplastic infiltrations, which spread through the subarachnoid space. Neoplastic infiltrations were also present in the third ventricle and in a form of small subependymal nodules along the whole ventricular system. The microscopical examination showed that neoplasm consisted of small cells, which formed neuroblastic Homer Wright rosettes. Immunohistochemical studies (for synaptophysin, chromogranin A, GFAP, vimentin) together with morphology and localization of neoplasm suggested diagnosis of primitive neuroectodermal tumor (PNET) that spread mainly in the leptomeninges and caused obliteration of subarachnoid space.

Adult↗
PubMed1994

Multifocal central nervous system glioma--a case history.

A case history of the multifocal brain glioma in 13-year-old girl is reported. Numerous neoplasmatic foci were found using MRI within the vermis and cerebellar hemisphere and, later, also within the brain stem, cervical spinal cord and both brain hemispheres. Bioptical examination of the tumors revealed the structure of anaplastic astrocytoma with oligodendromatous component. The authors suggest that the foci may be considered as multiple metastases from the primary cerebellar astrocytoma and the neoplastic cells might have been transported within CNS through cerebrospinal fluid.

Cerebellar Neoplasms↗
PubMed1994

[Changes in NMR and CT images in SSPE].

In 25 patients with subacute sclerosing panencephalitis in various phases of the disease CT and NMR imaging of the brain were done at the same times and the findings were related to clinical symptomatology. NMR imaging, in contrast to CT imaging, demonstrated even very small brain changes in the initial stage. The inflammatory-demyelinizing process begins in SSPE as a rule in the white matter of the occipital lobes, and only later in appears in the vicinity of the anterior horns of the lateral ventricles. Spreading of subcortical changes in the occipital lobes and their later penetration into the parietal lobes causes the development of ideatory apraxia frequent in these cases, and involvement of the cortex of the occipital lobes leads to visual agnosia. The paresis of extremities in later stages not always are correlated with greater intensity of changes in the contralateral cerebral with greater intensity of changes in the contralateral cerebral hemisphere. Hydrocephalus developing after longer duration of the disease is an expression of postinflammatory brain atrophy and not of disturbances in cerebrospinal fluid absorption.

Adolescent↗
PubMed1993

[Role of aluminum in the etiopathogenesis of neurological disturbances].

Some more important former and recent views on Aluminium influence on degenerative changes of nervous tissue-including those of Alzheimer's type-were presented. Attention was payed also to Aluminium participation in developing of encephalopathy in dialysed persons and in accumulation of metallic deposits in brain in the so-called Fahr's syndrome.

Aluminum↗
PubMed1992

Effect of treatment on oligoclonal IgG bands and intrathecal IgG synthesis in sequential cerebrospinal fluid and serum from patients with subacute sclerosing panencephalitis.

Oligoclonal IgG bands were analyzed in matching pairs of cerebrospinal fluid (CSF) and serum from 12 subacute sclerosing panencephalitis (SSPE) patients, using isoelectric focusing and immunofixation. Each patient was given isoprinosine, and four of the 12 patients were given alpha-interferon in addition. Two to 4 serial CSF and serum samples were collected from each SSPE patient during periods ranging from 1 to 16 months. In 3 SSPE patients a small number of new oligoclonal bands were seen in the follow-up CSF samples. In the other 9 SSPE patients there was no change in CSF band patterns between initial and follow-up specimens. Band patterns in serum remained unchanged between initial and follow-up samples. Although all 12 SSPE cases had higher IgG indices and increased rate of intra blood-brain barrier (BBB) IgG synthesis in comparison to patients with other neurological diseases, the values did not significantly differ between the first and follow-up specimens. We conclude that treatment of SSPE patients with isoprinosine or with isoprinosine and alpha-interferon had no significant effect on the CSF oligoclonal band profiles or IgG synthesis within the central nervous system.

Adolescent↗
PubMed1992

Increased levels of beta 2-microglobulin, soluble interleukin-2 receptor, and soluble CD8 in patients with subacute sclerosing panencephalitis.

We measured beta 2-microglobulin (beta 2-M), soluble interleukin-2 receptor (sIL-2R), and soluble CD8 (sCD8) antigen levels in paired cerebrospinal fluid (CSF) and sera from patients with subacute sclerosing panencephalitis (SSPE), multiple sclerosis (MS), and other neurological diseases (OND) using enzyme-linked immunosorbent assay. beta 2-M was significantly increased in CSF of the SSPE group compared to the MS or the OND group. Similarly, beta 2-M in the MS versus OND group was significantly increased in CSF. Although serum levels of beta 2-M were similar in the three groups, the CSF/serum ratios were higher in SSPE versus the MS group and in the MS versus the OND group. Levels of sIL-2R and sCD8 were higher in SSPE CSF than OND CSF; however, there were no differences between levels in SSPE and MS CSF. The levels of sIL-2R were increased in SSPE sera compared to those of MS or the OND group, whereas levels of sCD8 in serum from the three groups were similar. The findings of increased CSF/serum ratio of beta 2-M and higher levels of serum sIL-2R and CSF sCD8 in SSPE patients are consistent with those seen in patients with acute and chronic viral infections. When the levels between the initial and follow-up CSF and serum samples from SSPE patients were compared, the data showed that CSF levels of sCD8 elevated during periods of clinical worsening and decreased during clinical improvement. In contrast, serum beta 2-M decreased during periods of worsening and increased during improvement. The measurement of serum beta 2-M and CSF sCD8 may be useful in SSPE patients as markers to monitor disease activity.

Adolescent↗