Počet případů demence celosvětově narůstá. Na světě trpí demencí více než 55 milionů lidí a podle odhadů světové zdravotnické organizace se toto číslo může v příštích 30 letech více než zdvojnásobit. Demence tedy představuje globální zdravotní výzvu. Report komise časopisu Lancet (2024) identifikoval 14 modifikovatelných rizikových faktorů, jejichž eliminací by bylo možné předejít až 45 % případů demence. Mezi klíčové faktory patří nízké vzdělání, ztráta sluchu, vysoký LDL cholesterol, deprese, traumatické poranění mozku, nedostatečná fyzická aktivita, diabetes, kouření, hypertenze, obezita, nadměrná konzumace alkoholu, sociální izolace, znečištěné ovzduší a neléčená ztráta zraku. Význam jednotlivých rizikových faktorů se mění v průběhu života, ale jejich včasné ovlivnění může významně snížit riziko rozvoje demence. Identifikace a cílená intervence modifikovatelných rizikových faktorů by měla být prioritou jak v individuální klinické praxi, tak na úrovni veřejného zdravotnictví.
The number of dementia cases is increasing globally. Currently, more than 55 million people worldwide are living with dementia, and according to the World Health Organization, this number is expected to more than double in the next 30 years. Dementia thus represents a significant global health challenge. The 2024 Lancet Commission report identified 14 modifiable risk factors, the elimination of which could potentially prevent up to 45 % of dementia cases. These key risk factors include low education, hearing loss, high LDL cholesterol, depression, traumatic brain injury, physical inactivity, diabetes, smoking, hypertension, obesity, excessive alcohol consumption, social isolation, air pollution, and untreated vision loss. The relevance of individual risk factors varies across the lifespan; however, early intervention can significantly reduce the risk of developing dementia. The identification and targeted intervention of modifiable risk factors should be a priority in both individual clinical practice and public health strategies.
- MeSH
- demence * etiologie prevence a kontrola MeSH
- kognitivní poruchy etiologie prevence a kontrola MeSH
- lidé MeSH
- rizikové faktory MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
Chronic ataxias with onset after the age of 50 differ significantly from ataxias with childhood or early adulthood onset. This article focuses on late-onset hereditary ataxias, particularly on new subtypes such as CANVAS (Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome) and SCA27B (Spinocerebellar Ataxia type 27B). It describes their clinical manifestations and diagnostic methods, including genetic testing and differential diagnosis against other sporadic ataxias, such as Multiple system atrophy type C. We present the main principles of diagnosing hereditary ataxias and the diagnostic approach used at the Center of Hereditary Ataxias at the Motol University Hospital, which includes a combination of laboratory, imaging, and genetic tests that allow for the exclusion of acquired causes and a pragmatic diagnosis of hereditary diseases.
- Klíčová slova
- CANVAS, FXTAS,
- MeSH
- ataxie * diagnóza genetika klasifikace MeSH
- diferenciální diagnóza MeSH
- lidé středního věku MeSH
- lidé MeSH
- multisystémová atrofie diagnóza genetika MeSH
- senioři MeSH
- spinocerebelární ataxie * diagnóza genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is known about other NPS. We aimed to study the presence and severity of a broad range of NPS in individuals with FRDA and assess the relationship between the NPS and the disease severity, cognition, and quality of life and to examine the concordance between the NPS reported by the patients and by their informants. Mild Behavioral Impairment Checklist (MBI-C), a questionnaire designed for screening NPS in the early stages of neurodegenerative diseases, was administered to informants of individuals with FRDA and healthy controls and to people with FRDA themselves. Compared to healthy controls, patients with FRDA scored significantly higher in the total MBI-C score, emotion dysregulation domain (corresponding to depression and anxiety), and decreased motivation domain. When assessed by caregiver, the total MBI-C score and several NPS domains correlated with activities of daily living. Only psychotic symptoms were related to ataxia severity and general cognition. When endorsed by patients, only the relation between few MBI-C domains and quality of life was observed. We found slight to moderate agreement between informant-rated and patient-rated scores. NPS, particularly emotion dysregulation and decreased motivation, are common and clinically relevant in FRDA and should receive more attention due to their potential impact on quality of life and the possibility of therapeutic intervention.
- MeSH
- činnosti denního života MeSH
- deprese etiologie MeSH
- dospělí MeSH
- Friedreichova ataxie * psychologie komplikace MeSH
- kognice MeSH
- kvalita života * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- průzkumy a dotazníky MeSH
- studie případů a kontrol MeSH
- stupeň závažnosti nemoci MeSH
- úzkost MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
This study presents an in-depth analysis of mitochondrial enzyme activities in Friedreich's ataxia (FA) patients, focusing on the Electron Transport Chain complexes I, II, and IV, the Krebs Cycle enzyme Citrate Synthase, and Coenzyme Q10 levels. It examines a cohort of 34 FA patients, comparing their mitochondrial enzyme activities and clinical parameters, including disease duration and cardiac markers, with those of 17 healthy controls. The findings reveal marked reductions in complexes II and, specifically, IV, highlighting mitochondrial impairment in FA. Additionally, elevated Neurofilament Light Chain levels and cardiomarkers were observed in FA patients. This research enhances our understanding of FA pathophysiology and suggests potential biomarkers for monitoring disease progression. The study underscores the need for further clinical trials to validate these findings, emphasizing the critical role of mitochondrial dysfunction in FA assessment and treatment.
- MeSH
- biologické markery * metabolismus MeSH
- citrátsynthasa metabolismus MeSH
- dospělí MeSH
- Friedreichova ataxie * diagnóza MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mitochondrie metabolismus MeSH
- mladiství MeSH
- mladý dospělý MeSH
- ubichinon * analogy a deriváty MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Apart from its role in motor coordination, the importance of the cerebellum in cognitive and affective processes has been recognized in the past few decades. Spinocerebellar ataxias (SCA) and Friedreich ataxia (FRDA) are rare neurodegenerative diseases of the cerebellum presenting mainly with a progressive loss of gait and limb coordination, dysarthria, and other motor disturbances, but also a range of cognitive and neuropsychiatric symptoms. This narrative review summarizes the current knowledge on neuropsychiatric impairment in SCA and FRDA. We discuss the prevalence, clinical features and treatment approaches in the most commonly reported domains of depression, anxiety, apathy, agitation and impulse dyscontrol, and psychosis. Since these symptoms have a considerable impact on patients' quality of life, we argue that further research is mandated to improve the detection and treatment options of neuropsychiatric co-morbidities in ataxia patients.
- MeSH
- Friedreichova ataxie * komplikace MeSH
- komorbidita MeSH
- kvalita života MeSH
- lidé MeSH
- mozeček MeSH
- spinocerebelární ataxie * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
