Introduction: Primary progressive aphasia (PPA) is a clinically variable syndrome manifesting as slow progressive loss of speech and language with multiple underlying neurodegenerative pathologies. Materials and Methods: We included data from nine PPA patients with available autopsies. We then retrospectively reviewed all available medical records, neuropsychology, and MRI results to confirm the corresponding subtypes of PPA and compared them with postmortem neuropathological results. Results: Clinical presentations corresponded to the nonfluent/agrammatic variant in six cases, the semantic variant in one case, the logopenic variant in one case, and the mixed variant (concomitant nonfluent/agrammatic plus semantic variant) in one case. Patients with a broader clinical presentation, i.e., combining manifestations of one PPA subtype and symptoms of another PPA variant, had autopsy comorbidities showing multiple neurodegenerative disorders. Of the nine subjects enrolled in the study, Alzheimer's disease (AD) was found in eight cases; however, in only one case, AD was detected as an isolated neuropathological substrate of PPA. In eight brain samples, different comorbid neuropathologies were detected: three cases with comorbid AD and dementia with Lewy bodies, two cases with comorbid AD and TDP-43 pathology, one case with comorbid AD and complex tauopathies, and one case with comorbid AD with both tau and TDP-43 deposits. Finally, one case had comorbid tau and TDP-43 pathology but without comorbid AD pathology. Conclusions: Our observation suggests that PPA cases could be more heterogeneous in their etiology than previously thought and underlying neurodegenerative comorbidities should be considered in routine practice, especially if the clinical presentation of PPA is atypical.

• MeSH
• Alzheimerova nemoc * komplikace   MeSH
• DNA vazebné proteiny metabolismus   MeSH
• lidé MeSH
• mozek patologie   MeSH
• primární progresivní afázie * MeSH
• retrospektivní studie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Creutzfeldt-Jakob disease (CJD), the most common human prion disorder, may occur as "pure" neurodegeneration with isolated prion deposits in the brain tissue; however, comorbid cases with different concomitant neurodegenerative diseases have been reported. This retrospective study examined correlations of clinical, neuropathological, molecular-genetic, immunological, and neuroimaging biomarkers in pure and comorbid CJD. A total of 215 patients have been diagnosed with CJD during the last ten years by the Czech National Center for Prion Disorder Surveillance. Data were collected from all patients with respect to diagnostic criteria for probable CJD, including clinical description, EEG, MRI, and CSF findings. A detailed neuropathological analysis uncovered that only 11.16% were "pure" CJD, while 62.79% had comorbid tauopathy, 20.47% had Alzheimer's disease, 3.26% had frontotemporal lobar degeneration, and 2.33% had synucleinopathy. The comorbid subgroup analysis revealed that tauopathy was linked to putaminal hyperintensity on MRIs, and AD mainly impacted the age of onset, hippocampal atrophy on MRIs, and beta-amyloid levels in the CSF. The retrospective data analysis found a surprisingly high proportion of comorbid neuropathologies; only 11% of cases were verified as "pure" CJD, i.e., lacking hallmarks of other neurodegenerations. Comorbid neuropathologies can impact disease manifestation and can complicate the clinical diagnosis of CJD.

• Publikační typ
• časopisecké články MeSH

Due to known information processing capabilities of the brain, neurons are modeled at many different levels. Circuit theory is also often used to describe the function of neurons, especially in complex multi-compartment models, but when used for simple models, there is no subsequent biological justification of used parts. We propose a new single-compartment model of excitatory and inhibitory neuron, the capacitor-switch model of excitatory and inhibitory neuron, as an extension of the existing integrate-and-fire model, preserving the signal properties of more complex multi-compartment models. The correspondence to existing structures in the neuronal cell is then discussed for each part of the model. We demonstrate that a few such inter-connected model units are capable of acting as a chaotic oscillator dependent on fire patterns of the input signal providing a complex deterministic and specific response through the output signal. The well-known necessary conditions for constructing a chaotic oscillator are met for our presented model. The capacitor-switch model provides a biologically-plausible concept of chaotic oscillator based on neuronal cells.

• MeSH
• akční potenciály fyziologie   MeSH
• modely neurologické MeSH
• mozek metabolismus   MeSH
• neurony metabolismus   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: Bulbous neuritic changes in neuritic plaques have already been described, and their possible effect on the clinical course of the disease has been discussed. OBJECTIVE: In our study, we focused on the location and density of these structures in patients with only Alzheimer's disease (AD) and patients with AD in comorbidity with synucleinopathies. METHODS: Utilizing immunohistochemistry and confocal microscopy, we evaluated differences of neocortical and archicortical neuritic plaques and the frequency of bulbous changes in the archicortex of 14 subjects with Alzheimer's disease (AD), 10 subjects with the Lewy body variant of Alzheimer's disease (AD/DLB), and 4 subjects with Alzheimer's disease with amygdala Lewy bodies (AD/ALB). Also, the progression and density of neuritic changes over the time course of the disease were evaluated. RESULTS: We found structural differences in bulbous dystrophic neurites more often in AD/DLB and AD/ALB than in pure AD cases. The bulbous neuritic changes were more prominent in the initial and progressive phases and were reduced in cases with a long clinical course. CONCLUSION: Our results indicate that there is a prominent difference in the shape and composition of neocortical and archicortical neuritic plaques and, moreover, that bulbous neuritic changes can be observed at a higher rate in AD/DLB and AD/ALB subjects compared to pure AD subjects. This observation probably reflects that these subacute changes are more easily seen in the faster clinical course of AD patients with comorbidities.

• MeSH
• Alzheimerova nemoc patologie   MeSH
• amyloidní plaky patologie   MeSH
• hipokampus patologie   MeSH
• imunohistochemie MeSH
• lidé MeSH
• neurity patologie   MeSH
• pilotní projekty MeSH
• senioři MeSH
• synukleinopatie patologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ANN NEUROL 2019;86:643-652.

• MeSH
• dospělí MeSH
• fenotyp MeSH
• Gerstmannova-Strausslerova-Scheinkerova nemoc patologie   patofyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Biological systems manifest continuous weak autoluminescence, which is present even in the absence of external stimuli. Since this autoluminescence arises from internal metabolic and physiological processes, several works suggested that it could carry information in the time series of the detected photon counts. However, there is little experimental work which would show any difference of this signal from random Poisson noise and some works were prone to artifacts due to lacking or improper reference signals. Here we apply rigorous statistical methods and advanced reference signals to test the hypothesis whether time series of autoluminescence from germinating mung beans display any intrinsic correlations. Utilizing the fractional Brownian bridge that employs short samples of time series in the method kernel, we suggest that the detected autoluminescence signal from mung beans is not totally random, but it seems to involve a process with a negative memory. Our results contribute to the development of the rigorous methodology of signal analysis of photonic biosignals.

• MeSH
• klíčení fyziologie   MeSH
• luminiscence * MeSH
• vigna růst a vývoj   MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: We aimed to produce a detailed neuropathological analysis of pyramidal motor system pathology and provide its clinical pathological correlation in cases with definite progressive supranuclear palsy (PSP). METHODS: Pyramidal motor system pathologies were analyzed in 18 cases with neuropathologically confirmed PSP. Based on a retrospective clinical analysis, cases were subtyped according to Movement Disorder Society criteria for clinical diagnosis of PSP as probable, possible or suggestive of PSP with Richardson's syndrome (n = 10), PSP with predominant corticobasal syndrome (n = 3), PSP with predominant parkinsonism (n = 3), PSP with predominant speech/language disorder (n = 1), and PSP with progressive gait freezing (n = 1). Clinical manifestations of motor neuron involvement (pseudobulbar or bulbar signs and spasticity) were retrospectively assessed semiquantitatively. Neuropathologically, hyperphosphorylated tau-related pyramidal motor system neuronal, neuritic, and glial pathology using anti-tau AT8 clone immunohistochemistry, was also evaluated. RESULTS: Clinical manifestations of pyramidal motor system involvement were found in patients with different PSP subtypes. A statistically significant higher load of tau pathology was found in the pyramidal system in PSP-Richardson's syndrome compared to other PSP subtypes (p = 0.016); however, there was no significant correlation between pyramidal system tau pathology and related motor clinical symptoms. CONCLUSIONS: Tau pathology in the spinal cord and pyramidal motor system structures is very common in progressive supranuclear palsy and may neuropathologically supplement the distinction between classic Richardson's syndrome from other progressive supranuclear palsy subtypes.

• MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• mozková kůra patologie   MeSH
• parkinsonské poruchy diagnóza   patologie   MeSH
• pohybové poruchy diagnóza   patologie   MeSH
• progresivní supranukleární obrna diagnóza   patologie   MeSH
• proteiny tau metabolismus   MeSH
• pyramidové dráhy patologie   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Damage to the cerebellum may lead to motor dysfunctions, but also to the neuropsychological deficits that comprise the Cerebellar Cognitive Affective Syndrome (CCAS). It can affect executive functions, attention, memory, visuospatial functions, language, and emotions. Our goal was to determine which neuropsychological tests could be effectively used to identify this syndrome during a short examination. METHODS: Twenty-five patients with an isolated cerebellar lesion and 25 matched healthy controls were examined using an extensive neuropsychological battery. RESULTS: Logistic regression models and sub-models were computed for individual tests, as well as for the full battery. The best results were produced by a model combining patient education level, the number of errors on the California Verbal Learning Test, and time on Prague Stroop Test (Dots). CONCLUSIONS: Based on the results, we suggest that a condensed battery of neuropsychological tests can be used to detect CCAS. The tests are easy to administer and could be helpful in both research and clinical settings.

• Publikační typ
• časopisecké články MeSH

Genetic aspects of neurodegenerative diseases and a multidisciplinary approach are of increasing importance. In this study we will enroll patients fulfilling clinical diagnostic criteria of different forms of frontotemporal lobar degenerations (FTLD). Detailed neuropsychological evaluations, cerebrospinal fluid analysis, MR imaging, and DNA isolation form peripheral blood will be performed for all subjects. Molecular genetic exploration will be oriented towards analyses of genes involved in FTLD pathogenesis including direct exon sequencing in selected cases. Postmortem neuropathological examination will allow us to confirm the clinical diagnosis and follow the expression of specific selected proteins related to neurodegeneration. More precise diagnosis and eventually findings of new pathogenic mutations, in clinically less pronounced neurodegeneration, will profoundly modify the accuracy of prognoses and improve genetic consulting for relatives of patients with a proven genetic mutation.

Genetické aspekty neurodegenerativních onemocnění a multidisciplinární diagnostický přístup získávají v posledních letech na významu. Do studie budou zařazeni pacienti splňující klinická kriteria různých forem fronto-temporálních lobárních degenerací (FTLD), u nichž bude provedeno detailní neuropsychologické vyšetření, analýza mozkomíšního moku, podrobné vyšetření MRI a odběr krve na izolaci DNA. Molekulárně genetické vyšetření bude zaměřeno na analýzu genů s prokázanou rolí v patogenezi FTLD včetně přímého sekvenování exonových úseků ve vybraných případech. Neuropatologické vyšetření post mortem umožní potvrdit klinickou diagnózu a sledovat expresi vybraných specifických proteinů s prokázaným vztahem k neurodegeneracím. Upřesnění etiologie a případný nález nové patogenní mutace u některých klinicky méně vyhraněných neurodegenerativních onemocnění zlepší diagnostiku a zásadně ovlivní i odhad prognózy a pomoc v genetickém poradenství u rodinných příslušníků pacientů s prokázanou genetickou odchylkou.

• MeSH
• diagnostické techniky molekulární MeSH
• DNA analýza   MeSH
• exony MeSH
• frontotemporální demence diagnóza   MeSH
• frontotemporální lobární degenerace diagnóza   MeSH
• genetická predispozice k nemoci MeSH
• genetické poradenství MeSH
• magnetická rezonanční tomografie MeSH
• mezioborová komunikace MeSH
• mozkomíšní mok MeSH
• neurodegenerativní nemoci diagnóza   MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• neurologie
• NLK Publikační typ
• závěrečné zprávy o řešení grantu IGA MZ ČR

• MeSH
• časové faktory MeSH
• lidé MeSH
• longitudinální studie MeSH
• nenasazení léčby MeSH
• prognóza MeSH
• prospektivní studie MeSH
• resuscitační péče * MeSH
• senioři MeSH
• smrt * MeSH
• získávání tkání a orgánů * metody   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• dopisy MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH