A case of Alzheimer's disease simulating Creutzfeldt-Jakob disease.]

A case of Alzheimer's disease simulating Creutzfeldt-Jakob disease--We report here a case of 67-year old man with frank dementia accompanied by extrapyramidal syndrome and myoclonic jerks. The diagnosis of Creutzfeldt-Jakob disease was suggested but the neuropathological examination revealed features most compatible with Alzheimer's disease. The "gray area" between both cerebral amyloidoses was discussed.     

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups

International Journal of Legal Medicine - Improving accuracy of the available predictive DNA methods is important for their wider use in routine forensic work. Information on age in the process of...     

Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. Genotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44. 1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes' polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE epsilon4 allele was not related to the disease course or the ApoE epsilon2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (P < 0.05) and by a higher value of EDSS. According to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.     

PrP amyloid plaques in Creutzfeldt-Jakob disease of short duration: immunohistochemical studies of 5 cases from Poland.

We report here PrP-immunohistochemistry performed on brains from CJD cases from Poland. Only one of five definitive CJD cases exhibited typical PrP-immunoreactive kuru-like plaques and this was case of a short duration. We thus confirm the low frequency of PrP plaques in CJD of Eastern and Central European origin.Corresponding author.     

Immunohistochemical study of a case with progressive supranuclear palsy without ophthalmoplegia

Summary A case of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome; PSP) with parkinsonism and absence of gaze palsy or mental changes is reported. Neuropathological examination, apart from typical changes, showed, lack of midbrain tegmentum demyelination, marked loss of Purkinje cells and presence of hyalin-line bodies in individual neurons of the substantia nigra. Immunostaining against tau-1 protein revealed the prevalence of a diffuse reaction in locus coeruleus neurons; reflecting either different ability of these cells to accumulate straight filaments, or a various time sequence of neurofibrillary tanglesformation. Ferritin immunohistochemistry demonstrated widespread microglial cell proliferation, confirming further the generalized character of CNS pathology in PSP.     

Peripheral nervous system alterations in small cell lung cancer. Clinico-pathological study.

Small cell lung cancer (SCLC) is one of the most malignant tumors, especially often associated with nonmetastatic neurological disorders, corresponding to paraneoplastic neurological syndromes. The pathogenesis of which is unknown, however, mostly attributed to autoimmune processes. The aim of the study was to determine the pattern of the peripheral nervous system damage in SCLC. To provide further data contributing to the pathomechanism underlying these syndromes, immunocytochemical studies were initiated. Autopsy material was collected from 47 cases of SCLC. All these patients were examined clinically. The sections from the cervical, thoracic and lumbosacral segments of the spinal cord with spinal roots and dorsal root ganglia were taken. For immunohistochemistry following antisera were used: GFAP, MBP, IgG, IgM, ferritin, ubiquitin, alpha 1-antichymotrypsin, alpha 2-macroglobulin, C3 and C5b9 complement fractions. In 18 patients peripheral nervous system disturbances were diagnosed neurologically, 21 of cases presented neuromuscular disorders by emg. Among the nonmetastatic lesions most often a damage of dorsal root ganglia was observed (in 33 cases). Degeneration of the spinal roots was absent only in 8 cases. In 21 cases degenerative changes of motor neurons within anterior horn were present. In no case ubiquitin-positive inclusion bodies within the motor neurons could be found. In 8 cases extravasation of the IgG with diffuse labeling of the grey matter was observed. IgM immunoreactivity was markedly less frequently present, C5b9 complement fraction immunoreactivity was also confined only to cases with peripheral nervous system disturbances. Therefore, our preliminary data seem to confirm the participation of humoral immunity in paraneoplastic syndrome pathogenesis.     

Creutzfeldt-Jakob disease with tubulovesicular structures: an ultrastructural study.

Tubulovesicular structures (TVS) have been consistently observed in brain tissue of the transmissible spongiform virus encephalopathies such as natural and experimental scrapie, bovine spongiform encephalopathy and experimentally induced Creutzfeldt-Jakob disease (CJD). TVS were recently demonstrated in 3 cases of naturally occurring CJD. We report here the presence of TVS in another human brain with CJD, as detected in all 3 specimens by thin section electron microscopy. Their occurrence in all types of spongiform encephalopathies, irrespective of the affected host and the strain of infectious agent, emphasizes their biological significance.     

TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity

Recently, it has been reported that TOMM40 variable-length poly-T sequence polymorphism (rs10524523) in combination with APOE alleles (E2, E3, E4) significantly influences late-onset Alzheimer's disease (LOAD) age of onset. In a group of 414 LOAD patients, 173 centenarians and 305 neurologically healthy individuals, we investigated the impact of TOMM40 poly-T tracts on LOAD incidence, age of onset, and longevity. TOMM40 allelic variants were classified into four categories: short (S; 14-16T), long a (La; 20-22T), long b (Lb; 26-30T), and very long (VL; 31-39T). Our results demonstrate that La and Lb share similar characteristics in affecting LOAD risk, thus for some analyses they were combined into L category. We observed significantly lower frequency of VL allele (p < 0.0001) and significantly higher frequency of L alleles in the LOAD patients compared to the control individuals (p < 0.0001). S/S, S/VL, and VL/VL genotypes and VL-E2, S-E3, VL-E3 haplotypes are significantly associated with lower LOAD risk. VL-E3 haplotype carriers significantly more frequently developed LOAD when they were ≥79 years old. Additionally, S/L genotype is associated with a significantly increased LOAD risk (p < 0.0001). We conclude that in the carriers of TOMM40-APOE haplotypes comprising E4 allele, the TOMM40 rs10524523 allele does not play substantial role in establishing LOAD risk. Nevertheless, TOMM40 L allele increases the risk when E4 is absent. Finally, L allele, as well as genotypes (S/L, V/L) and haplotypes (L-E3, L-E4) comprising L significantly reduce the likelihood of living up to 100 years.