AIMS: Multiple sclerosis treatment strategies are changing in the Czech Republic. According to data from 2013-2021, the proportion of patients starting high-efficacy disease-modifying therapies is increasing. In this survey, we describe the actual data trends in multiple sclerosis (MS) patients beginning their first disease‑modifying therapies (DMTs) from 2013 to 2021. The secondary objective was to present the history, data collection, and scientific potential of the Czech National MS registry (ReMuS). METHODS: First, using descriptive statistics, we analysed the data for patients starting their first DMTs, either platform (including dimethyl fumarate) or high-efficacy DMTs (HE-DMTs), for each successive year. Second, a detailed description of the history, data collection, completeness, quality optimising procedures, and legal policies of ReMuS is provided. RESULTS: Based on the dataset from December 31, 2021, the total number of monitored patients with MS in ReMuS increased from 9,019 in 2013 (referred from 7 of 15 MS centres) to 12,940 in 2016 (referred from all 15 Czech MS centres) to 17,478 in 2021. In these years, the percentage of patients treated with DMTs in the registry ranged from 76 to 83%, but the proportion of patients treated with HE-DMTs changed from 16.2% in 2013 to 37.1% in 2021. During the follow-up period, a total of 8,491 treatment-naive patients received DMTs. The proportion of patients (all MS phenotypes) starting HE-DMTs increased from 2.1% in 2013 to 18.5% in 2021. CONCLUSION: Patient registries, including ReMuS, provide an essential quality data source, especially in light of the increasing percentage of patients on HE-DMTs. Although early initiation of HE-DMT can provide considerable benefits, it also carries greater potential risks. Consistent long-term follow-up of patients in real‑world clinical practice, which only registries allow, is therefore crucial to evaluate the efficacy and safety of therapeutic strategies, for epidemiological research and to assist decision making by healthcare providers and regulatory bodies.

• Klíčová slova
• disease-modifying therapy, epidemiology, high-efficacy therapy, multiple sclerosis, platform therapy, real-world data, registry, treatment initiation,
• MeSH
• dospělí MeSH
• imunologické faktory terapeutické užití   MeSH
• imunosupresiva terapeutické užití   MeSH
• lidé MeSH
• registrace * MeSH
• roztroušená skleróza * farmakoterapie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• imunologické faktory MeSH
• imunosupresiva MeSH

BACKGROUND: Cladribine, a selective immune reconstitution therapy, is approved for the treatment of adult patients with highly active multiple sclerosis (MS). OBJECTIVES: Provide experience with cladribine therapy in a real-world setting. METHODS: This is a registry-based retrospective observational cohort study. First, using data from the Czech nationwide registry ReMuS, we analysed patients who initiated cladribine from September 1, 2018 to December 31, 2021. Second, we analysed a subgroup of patients who initiated cladribine between September 1, 2018 to June 30, 2020, thus possessing a follow-up period of at least 2 years. We evaluated demographic and MS characteristics including disease-modifying therapies (DMTs) before and after cladribine administration, relapses, Expanded Disability Status Scale (EDSS), and adherence. RESULTS: In total, 617 patients (335 with follow-up of at least 2 years) started cladribine therapy in the study period (mean age 37.0, mean disease duration 8.4 years, 74.1% females). In most cases, cladribine was administered as a second-line drug, a total of 80.7% had been escalated from a platform DMT. During 2 years before cladribine initiation, the average annualised relapse rate (ARR) was .67. Following cladribine initiation, the ARR decreased to .28 in the first year and .22 in the second year. Overall, across the entire two-year treatment period, 69.0% of patients were relapse-free and the average ARR was .25. As for EDSS development, the median baseline EDSS was 2.5 and remained stable even after 24 months. The adherence to treatment ranged of around 90%. CONCLUSION: This nationwide study confirms the efficacy of cladribine in real-world settings, especially in patients who are not treatment-naïve. In addition, the study shows an exceptionally high adherence rate, a finding that underscores the invaluable role of cladribine, but also the value of registry-based studies in capturing real-world clinical practice.

• Klíčová slova
• Cladribine, adherence, annualised relapse rate, expanded disability status scale, high-efficacy disease-modifying therapy, multiple sclerosis,
• Publikační typ
• časopisecké články MeSH

BACKGROUND: In relapsing-remitting multiple sclerosis (RRMS) the most common treatment strategy has been to start with low-moderate efficacy disease modifying therapy (LE-DMT) and to escalate to more efficacious treatments in cases of breakthrough disease activity. However, recent evidence suggests a better outcome in patients commencing with moderate-high efficacy DMT (HE-DMT) immediately after clinical onset. OBJECTIVE: The aim of this study is to compare disease activity and disability outcomes in patients treated with the two alternative strategies using the Swedish and Czech national multiple sclerosis registries, taking advantage of the fact that the relative frequency of each strategy differs markedly between these two countries. METHODS: Adult RRMS patients who initiated their first-ever DMT between 2013 and 2016 and were included in the Swedish MS register were compared with a similar cohort from the MS register of the Czech Republic using propensity score overlap weighting as a balancing method. The main outcomes of interest were time to confirmed disability worsening (CDW), time to achieve an expanded disability status scale (EDSS) value of 4, time to relapse, and time to confirmed disability improvement (CDI). To support the results, a sensitivity analysis focusing solely on patients from Sweden starting with HE-DMT and patients from the Czech Republic starting with LE-DMT was performed. RESULTS: In the Swedish cohort, 42% of patients received HE-DMT as initial therapy compared to 3.8% of patients in the Czech cohort. The time to CDW was not significantly different between the Swedish and Czech cohorts (p-value 0.2764), with hazard ratio (HR) of 0.89 and a 95% confidence interval (CI) of 0.77-1.03. Patients from the Swedish cohort exhibited better outcomes for all remaining variables. The risk of reaching EDSS 4 was reduced by 26% (HR 0.74, 95%CI 0.6-0.91, p-value 0.0327), the risk of relapse was reduced by 66% (HR 0.34, 95%CI 0.3-0.39, p-value <0.001), and the probability of CDI was three times higher (HR 3.04, 95%CI 2.37-3.9, p-value <0.001). CONCLUSION: The analysis of the Czech and the Swedish RRMS cohorts confirmed a better prognosis for patients in Sweden, where a significant proportion of patients received HE-DMT as initial treatment.

• Klíčová slova
• Escalation strategy, High-efficacy DMT, Multiple sclerosis, Registry study,
• MeSH
• dospělí MeSH
• lidé MeSH
• recidiva MeSH
• registrace MeSH
• relabující-remitující roztroušená skleróza * farmakoterapie   epidemiologie   MeSH
• roztroušená skleróza * farmakoterapie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Švédsko epidemiologie   MeSH

Neurological sequelae including gait impairment were reported in survivors after methanol intoxication; however, no systematic study has been published so far. We aimed to analyse gait and balance impairment in a group of Czech methanol poisoning survivors. We examined 43 patients (age 46 ± 13 years) 2-8 months after methanol poisoning and 43 healthy controls. Investigations contained a shortened version of Falls Efficacy Scale (FES), clinical tests of gait and balance including Timed Up and Go test (TUG) and gait analysis using GaitRite® system, neurological and neuropsychological examination, brain imaging, EMG and tests of alcohol consumption. Nineteen patients admitted balance and gait impairment according to FES. Mild to moderate parkinsonian signs showed seven patients. Patients were slower (8.8 versus 5.7 s, p < 0.001) and performed more steps (11.1 versus 7.9, p < 0.001) in TUG compared with the controls. Gait analysis revealed shorter step length (76.5 versus 88.7 cm, p < 0.001), increased double support phase (18.8 versus 15.5%, p < 0.001) and wider base of support (11.3 versus 9.6 cm, p = 0.006) in patients. Eleven patients had deficit of executive function and performed higher cadence compared to the patients with normal execution (122.7 versus 115.0 step/min., p = 0.025). Lower limb polyneuropathy was verified in nine patients, without relation with gait or balance parameters. Neuroimaging revealed lesions mainly in the basal ganglia. Methanol poisoning survivors presented slower wide-based gait with shortened steps corresponding with frontal gait disorder. Higher stepping cadence associated with executive deficit supported the evidence of frontal lobe dysfunction related to impairment of basal ganglia and connections in frontal cortico-basal ganglia loops.

• MeSH
• chůze (způsob) účinky léků   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• methanol otrava   MeSH
• mozek diagnostické zobrazování   účinky léků   MeSH
• nemoci nervového systému chemicky indukované   diagnóza   epidemiologie   MeSH
• neurozobrazování metody   MeSH
• posturální rovnováha účinky léků   MeSH
• přežívající statistika a číselné údaje   MeSH
• rozpouštědla otrava   MeSH
• senioři MeSH
• test chůzí MeSH
• Check Tag
• dospělí MeSH
• 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
• Názvy látek
• methanol MeSH
• rozpouštědla 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.

• Klíčová slova
• Attention, Cerebellum, Cognition disorders, Executive function, Logistic models, Neuropsychological tests,
• Publikační typ
• časopisecké články MeSH

• Klíčová slova
• Brain biopsy, Brownell-Oppenheimer syndrome, Cerebellar ataxia, Creutzfeldt-Jakob disease,
• MeSH
• biopsie přístrojové vybavení   metody   MeSH
• cerebelární ataxie diagnóza   etiologie   patologie   chirurgie   MeSH
• Creutzfeldtova-Jakobova nemoc komplikace   diagnóza   patologie   chirurgie   MeSH
• diferenciální diagnóza MeSH
• fatální výsledek MeSH
• lidé středního věku MeSH
• lidé MeSH
• mozek diagnostické zobrazování   patologie   chirurgie   MeSH
• point of care testing * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• dopisy MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices. Clinical and neuropathological correlations in atypical neurodegenerations are crucial to describe new entities of overlapping syndromes.

• Klíčová slova
• Progressive supranuclear palsy, TDP-43 inclusions, dementia, frontotemporal lobar degeneration, tauopathy,
• MeSH
• DNA vazebné proteiny metabolismus   MeSH
• frontotemporální demence komplikace   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mozek diagnostické zobrazování   metabolismus   MeSH
• neuropsychologické testy MeSH
• progresivní supranukleární obrna komplikace   diagnostické zobrazování   patologie   MeSH
• ubikvitin metabolismus   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• DNA vazebné proteiny MeSH
• TARDBP protein, human MeSH Prohlížeč
• ubikvitin MeSH

Whether nerve fiber loss, a prominent feature of advanced diabetic neuropathy, can be reversed by reestablishment of normal glucose control remains questionable. We present 8-year follow-up data on epidermal nerve fiber (ENF) density and neurological function in patients with type 1 diabetes after simultaneous pancreas and kidney transplantation (SPK) with long-term normoglycemia. Distal thigh skin biopsies with ENF counts, vibration perception thresholds (VPTs), autonomic function testing (AFT) and electrophysiological examinations were performed at time of SPK and 2.5 and 8 years after SPK in 12 patients with type 1 diabetes. In comparison to controls, baseline ENF density, VPT and AFT results of patients indicated severe neuropathy. At follow-up, all SPK recipients were insulin independent with excellent glycemic control and kidney graft function; however, the severe ENF depletion present at baseline had not improved, with total ENF absence in 11 patients at 8-year follow-up. Similarly, no amelioration occurred in the VPT and AFT results. Numerical improvement was seen in some electrophysiological parameters; however, statistical significance was achieved only in median motor nerve conduction velocity. ENF loss and functional deficits in advanced diabetic peripheral neuropathy are rarely reversible, even by long-term normoglycemia, which underscores the importance of neuropathy prevention by early optimal glycemic control.

• Klíčová slova
• clinical research/practice, diabetes: secondary complications, diabetes: type 1, endocrinology/diabetology, neurology, pancreas/simultaneous pancreas-kidney transplantation,
• MeSH
• diabetes mellitus 1. typu chirurgie   MeSH
• diabetické nefropatie etiologie   patologie   MeSH
• hodnoty glomerulární filtrace MeSH
• kůže inervace   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• následné studie MeSH
• nervová vlákna patologie   MeSH
• pooperační komplikace MeSH
• přežívání štěpu MeSH
• prognóza MeSH
• rejekce štěpu etiologie   patologie   MeSH
• rizikové faktory MeSH
• transplantace ledvin škodlivé účinky   MeSH
• transplantace slinivky břišní škodlivé účinky   MeSH
• vyšetření funkce ledvin MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH