• Klíčová slova
• ELECTROCARDIOGRAPHY *, WOLFF-PARKINSON-WHITE SYNDROME *,
• MeSH
• elektrokardiografie * MeSH
• lidé MeSH
• Wolffův-Parkinsonův-Whiteův syndrom * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Various cerebrospinal fluid (CSF) biomarkers are studied in Parkinson's disease (PD) and atypical parkinsonian syndromes (APS). Several studies found reduced 5-hydroxyindoleacetic acid (5-HIAA), the main serotonin metabolite, in PD. There is little evidence regarding its levels in APS. METHODS: We measured 5-HIAA in the CSF of 90 PD patients, 16 MSA patients, 26 progressive supranuclear palsy (PSP) patients, 11 corticobasal syndrome (CBS) patients, and 31 controls. We also compared the values in depressed and nondepressed patients. RESULTS: There was a statistically significant difference in CSF 5-HIAA in PD and MSA compared to the control group (median in PD 15.8 μg/L, in MSA 13.6 μg/L vs. 24.3 μg/L in controls; p = 0.0008 in PD, p = 0.006 in MSA). There was no statistically significant difference in CSF 5-HIAA in PSP and CBS compared to the control group (median in PSP 22.7 μg/L, in CBS 18.7 μg/L vs. 24.3 μg/L in controls; p = 1 in both PSP and CBS). CSF 5-HIAA levels were lower in PD patients with depression compared to PD patients without depression (median 8.34 vs. 18.48, p < 0.0001). CONCLUSIONS: CSF 5-HIAA is decreased in PD and MSA. The CSF 5-HIAA levels in PSP and CBS did not differ from those of the control group. There was a tendency toward lower CSF 5-HIAA in MSA than in PD; however, the results did not reach statistical significance. These results may be explained by more severe damage of the serotonergic system in synucleinopathies (PD and MSA) than in tauopathies (PSP and CBS).

• Klíčová slova
• 5-Hydroxyindoleacetic acid, Atypical parkinsonian syndromes, Cerebrospinal fluid, Parkinson’s disease,
• MeSH
• diferenciální diagnóza MeSH
• kyselina hydroxyindoloctová MeSH
• lidé MeSH
• multisystémová atrofie * diagnóza   MeSH
• Parkinsonova nemoc * diagnóza   MeSH
• parkinsonské poruchy * metabolismus   MeSH
• progresivní supranukleární obrna * MeSH
• tauopatie * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• kyselina hydroxyindoloctová MeSH

BACKGROUND: Parkinson's disease is a progressive neurodegenerative disease which causes health problem that affects more patients in the past few years. To be able to offer appropriate care, epidemiological analyses are crucial at the national level and its comparison with the international situation. AIM: The demographic description of reported patients with parkinsonism (including Parkinson's disease and atypical parkinsonian syndromes) according to the International Classification of Diseases (ICD-10) from the national health registries. METHODS: Retrospective analysis of data available from the National Health Information System-NHIS and the National Registry of Reimbursed Health Services (NRRHS). Analyzed epidemiological data are intending to determine the regional and specific prevalence of Parkinsonism in the Czech Republic. The International Classification of Diseases diagnoses (ICD-10) of G20 (Parkinson's disease-PD) and G23.1, G23.2, G23.3 (other degenerative disorders of basal ganglia), and G31.8 (another degenerative disease of basal ganglia) from the period of 2012 to 2018 were included into the analysis. RESULTS: We identified 78 453 unique patients from national registries in the period 2012 to 2018. Diagnoses of G20, G23.1, G23.2, and G31.8 were registered as the principal diagnoses in 76.6% of all individual patients. CONCLUSION: We have found a growing number of patients coded with ICD-10 of dg. G20, G23.1, G23.2, G23.3, or G31.8 (N = 27 891 in 2012, and N = 30 612 in 2018). We have proven regional differences in the prevalence of Parkinson´s diagnoses. Therefore we assume most likely also differences in the care of patients with PD based on the availability of specialty care centers.

• MeSH
• lidé středního věku MeSH
• lidé MeSH
• neurodegenerativní nemoci epidemiologie   MeSH
• Parkinsonova nemoc diagnóza   epidemiologie   MeSH
• parkinsonské poruchy diagnóza   epidemiologie   MeSH
• prevalence MeSH
• registrace MeSH
• retrospektivní studie MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

OBJECTIVE: Differentiating Parkinson's disease (PD) from atypical parkinsonian disorders (APD) such as Multiple System Atrophy, parkinsonian type (MSA-p) or Progressive Supranuclear Palsy (PSP-RS) can be challenging. Early signs of postural Instability and gait disability (PIGD) are considered clues that may signal presence of APD. However, it remains unknown which PIGD test - or combination of tests - can best distinguish PD from APD. We evaluated the discriminative value of several widely-used PIGD tests, and aimed to develop a short PIGD evaluation that can discriminate parkinsonian disorders. METHODS: In this multicentre cohort study patients were recruited by 11 European MSA Study sites. Patients were diagnosed using standardized criteria. Postural instability and gait disability was evaluated using interviews and several clinical tests. RESULTS: Nineteen PD, 21 MSA-p and 25 PSP-RS patients were recruited. PIGD was more common in APD compared to PD. There was no significant difference in axial symptoms between PSP-RS and MSA-p, except for self-reported falls (more frequent in PSP-RS patients). The test with the greatest discriminative power to distinguish APD from PD was the ability to perform tandem gait (AUC 0.83; 95% CI 71-94; p < 0.001), followed by the retropulsion test (AUC 0.8; 95% CI 0.69-0.91; p < 0.001) and timed-up-and-go test (TUG) (AUC 0.77; 95% CI 0.64-0.9; p = 0.001). The combination of these three tests yielded highest diagnostic accuracy (AUC 0.96; 95% CI 0.92-1.0; p < 0.001). CONCLUSIONS: Our study suggests that simple "bedside" PIGD tests - particularly the combination of tandem gait performance, TUG and retropulsion test - can discriminate APD from PD.

• Klíčová slova
• Atypical parkinsonian disorders, Multiple system atrophy, Parkinson's disease, Parkinsonian type, Postural instability and gait disability, Progressive supranuclear palsy,
• MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• neurologické poruchy chůze diagnóza   epidemiologie   patofyziologie   MeSH
• Parkinsonova nemoc diagnóza   epidemiologie   patofyziologie   MeSH
• parkinsonské poruchy diagnóza   epidemiologie   patofyziologie   MeSH
• posturální rovnováha fyziologie   MeSH
• prospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa epidemiologie   MeSH

Alien limb phenomenon is a rare syndrome associated with a feeling of non-belonging and disowning toward one's limb. In contrast, anarchic limb phenomenon leads to involuntary but goal-directed movements. Alien/anarchic limb phenomena are frequent in corticobasal syndrome (CBS), an atypical parkinsonian syndrome characterized by rigidity, akinesia, dystonia, cortical sensory deficit, and apraxia. The structure-function relationship of alien/anarchic limb was investigated in multi-centric structural magnetic resonance imaging (MRI) data. Whole-group and single-subject comparisons were made in 25 CBS and eight CBS-alien/anarchic limb patients versus controls. Support vector machine was used to see if CBS with and without alien/anarchic limb could be distinguished by structural MRI patterns. Whole-group comparison of CBS versus controls revealed asymmetric frontotemporal atrophy. CBS with alien/anarchic limb syndrome versus controls showed frontoparietal atrophy including the supplementary motor area contralateral to the side of the affected limb. Exploratory analysis identified frontotemporal regions encompassing the pre-/and postcentral gyrus as compromised in CBS with alien limb syndrome. Classification of CBS patients yielded accuracies of 79%. CBS-alien/anarchic limb syndrome was differentiated from CBS patients with an accuracy of 81%. Predictive differences were found in the cingulate gyrus spreading to frontomedian cortex, postcentral gyrus, and temporoparietoocipital regions. We present the first MRI-based group analysis on CBS-alien/anarchic limb. Results pave the way for individual clinical syndrome prediction and allow understanding the underlying neurocognitive architecture.

• Klíčová slova
• Alien limb syndrome, Anarchic limb syndrome, Corticobasal syndrome, Diagnosis prediction, Support vector machine,
• MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mozek diagnostické zobrazování   MeSH
• parkinsonské poruchy diagnostické zobrazování   MeSH
• počítačové zpracování obrazu MeSH
• senioři MeSH
• syndrom cizí končetiny diagnostické zobrazování   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: A higher prevalence of parkinsonism was recently identified in southeastern Moravia (Czech Republic). Further research confirmed 3 large pedigrees with familial autosomal-dominant parkinsonism spanning 5 generations. METHODS: This case report concerns a patient belonging to one of these 3 pedigrees, in whom motor and oculomotor symptoms were accompanied by frontal-type dementia, who finally developed a clinical phenotype of progressive supranuclear palsy. Molecular genetic examinations were performed due to the positive family history. RESULTS: No previously described causal mutation was found. After filtering against common variants (minor allele frequency (MAF) < 0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were identified: GIGYF2-GRB10 Interacting GYF Protein 2, PARK11 (c.*2030G > A, rs115669549); VPS35 gene-vacuolar protein sorting 35, PARK17 (c.102 + 33G > A, rs192115886); and FBXO7-F-box only protein 7 gene, PARK15 (c.540A > G, rs41311141). CONCLUSION: As to the changes in the FBXO7 and VPS35 genes (despite phylogenetic conservation in primates), probably neither the FBXO7 nor the VPS35 variants will be direct causal mutations. Both described variants, and possibly the influence of their combination, could increase the risk of the disease.

• MeSH
• F-box proteiny genetika   MeSH
• genetická predispozice k nemoci MeSH
• genetické testování MeSH
• lidé MeSH
• magnetická rezonanční tomografie metody   MeSH
• mozek diagnostické zobrazování   MeSH
• mutace MeSH
• parkinsonské poruchy * komplikace   diagnóza   genetika   MeSH
• progresivní supranukleární obrna * diagnóza   etiologie   patofyziologie   MeSH
• rodokmen MeSH
• senioři nad 80 let MeSH
• vezikulární transportní proteiny genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• F-box proteiny MeSH
• FBXO7 protein, human MeSH Prohlížeč
• vezikulární transportní proteiny MeSH
• VPS35 protein, human MeSH Prohlížeč

• MeSH
• elektrokardiografie MeSH
• lidé MeSH
• převodní systém srdeční abnormality   MeSH
• senioři MeSH
• Wolffův-Parkinsonův-Whiteův syndrom diagnóza   etiologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH

Historically, magnetic resonance imaging (MRI) has contributed little to the study of Parkinson's disease (PD), but modern MRI approaches have unveiled several complementary markers that are useful for research and clinical applications. Iron- and neuromelanin-sensitive MRI detect qualitative changes in the substantia nigra. Quantitative MRI markers can be derived from diffusion weighted and iron-sensitive imaging or volumetry. Functional brain alterations at rest or during task performance have been captured with functional and arterial spin labeling perfusion MRI. These markers are useful for the diagnosis of PD and atypical parkinsonism, to track disease progression from the premotor stages of these diseases and to better understand the neurobiological basis of clinical deficits. A current research goal using MRI is to generate time-dependent models of the evolution of PD biomarkers that can help understand neurodegeneration and provide reliable markers for therapeutic trials. This article reviews recent advances in MRI biomarker research at high-field (3T) and ultra high field-imaging (7T) in PD and atypical parkinsonism. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

• Klíčová slova
• 7T, MRI, Parkinson's disease, atypical parkinsonism, diffusion MRI, fMRI, iron, neuromelanin, resting state fMRI,
• MeSH
• lidé MeSH
• magnetická rezonanční tomografie metody   MeSH
• parkinsonské poruchy diagnostické zobrazování   MeSH
• zobrazování trojrozměrné * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Research Support, N.I.H., Extramural MeSH

• MeSH
• F-box proteiny genetika   MeSH
• fenotyp MeSH
• Lewyho tělíska patologie   MeSH
• lidé MeSH
• parkinsonské poruchy diagnóza   genetika   patologie   MeSH
• progresivní supranukleární obrna diagnóza   genetika   patologie   MeSH
• senioři nad 80 let MeSH
• vezikulární transportní proteiny genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• Publikační typ
• dopisy MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• F-box proteiny MeSH
• FBXO7 protein, human MeSH Prohlížeč
• vezikulární transportní proteiny MeSH
• VPS35 protein, human MeSH Prohlížeč

Clear speech refers to intentionally modifying conversational speech to maximise intelligibility. This study aimed to compare the speech behaviour of patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and Parkinson's disease (PD) under conversational and clear speech conditions to gain greater pathophysiological insight. A total of 68 participants including 17 PD, 17 MSA, 17 PSP and 17 healthy controls (HC) performed two readings of the same standardized passage. During the first reading, participants were instructed to read the text in an ordinary way, while during the second reading to read the text as clearly as possible. Acoustic analyses were based upon measurements of mean loudness, loudness variability, pitch variability, vowel articulation, articulation rate and speech severity. During clear speech production, PD patients were able to achieve improvements mainly in loudness (p < 0.05) and pitch variability (p < 0.001), leading to a reduction in overall speech severity (p < 0.001), whereas PSP and MSA patients were able to modulate only articulation rate (p < 0.05). Contrary to HC and PD groups, which slowed or maintained articulation rate, PSP and MSA groups employed a markedly faster articulation rate under the clear speech condition indicating an opposing approach to speech adaptation. Patients with atypical Parkinsonism showed a different strategy to intentionally improve their speech performance following a simple request to produce speech more clearly compared to PD, suggesting important therapeutic implications for speech rehabilitation management.

• Klíčová slova
• Acoustic analysis, Atypical parkinsonian syndromes, Clear speech, Dysarthria, Parkinson's disease, Speech impairment,
• MeSH
• dysartrie etiologie   MeSH
• lidé MeSH
• multisystémová atrofie * komplikace   MeSH
• Parkinsonova nemoc * komplikace   MeSH
• progresivní supranukleární obrna * komplikace   MeSH
• řeč MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH