Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Nov 2024
Prevalence of epilepsy: a population-based cohort study in Denmark with comparison to Global Burden of Disease (GBD) prevalence estimates.
The Global Burden of Disease Study (GBD) produces prevalence estimates for 'idiopathic epilepsy' (ie, of unknown aetiology) and 'secondary epilepsy' (ie, with known aetiology) but does not report prevalence by underlying aetiologies for 'secondary epilepsy'. ⋯ Prevalence estimates of 'total epilepsy', 'idiopathic epilepsy' and 'secondary epilepsy' in Denmark align with the GBD 2019 estimates. In future studies, it is suggested to explicitly include all types of epilepsy, including 'secondary epilepsy', which is currently estimated as sequelae (consequences) of underlying diseases.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2024
Cutaneous phosphorylated-synuclein: an early diagnostic biomarker for pure autonomic failure.
Pure autonomic failure (PAF) presents with progressive autonomic failure without other neurological features. Atypical presentations may lead to diagnostic uncertainty. We studied whether cutaneous phosphorylated-alpha-synuclein (p-syn) could distinguish between PAF, multiple system atrophy (MSA) and non-synucleinopathy-related autonomic failure, and examined its relationship with quantitative markers of cardiovascular autonomic failure. ⋯ Cutaneous p-syn was abundant in PAF, a predominantly peripheral alpha-synucleinopathy. It is a promising biomarker to help distinguish between PAF, MSA and non-synucleinopathy-related autonomic failure to aid early diagnosis and recruitment to future clinical trials. P-syn deposition on autonomic nerves may impair control of total peripheral resistance giving rise to symptomatic orthostatic hypotension.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2024
Cardiovascular risk and obesity impact loss of grey matter volume earlier in males than females.
It remains imperative to discover the time course that cardiovascular risk factors influence neurodegeneration in males and females and decipher whether the apolipoprotein (APOE) genotype mediates this relationship. Here we perform a large-scale evaluation of the influence of cardiovascular risk and obesity on brain volume in males and females in different age groups. ⋯ The strongest influence of cardiovascular risk and obesity on reduced brain volume was between 55-64 years of age in males, whereas women were most susceptible to the detrimental effects of cardiovascular risk a decade later between 65-74 years of age. Here we elucidate the timing that targeting cardiovascular risk factors and obesity should be implemented in males and females to prevent neurodegeneration and Alzheimer's disease development.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2024
ReviewGuidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD.
There is a growing understanding of the presymptomatic stages of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and nascent efforts aiming to prevent these devastating neurodegenerative diseases have emerged. This progress is attributable, in no small part, to the altruism of people living with pathogenic variants at elevated genetic risk for ALS/FTD via their willingness to participate in natural history studies and disease prevention trials. Increasingly, this community has also highlighted the urgent need to develop paradigms for providing appropriate clinical care for those at elevated risk for ALS and FTD. ⋯ Clinical care recommendations span genetic testing (including counselling and sociolegal implications); monitoring for the emergence of early motor, cognitive and behavioural signs of disease; and the use of Food and Drug Administration-approved small molecule drugs and gene-targeting therapies. Lifestyle recommendations focus on exercise, smoking, statin use, supplement use, caffeine intake and head trauma, as well as occupational and environmental exposures. While the evidence base to inform clinical and lifestyle recommendations is limited, this guidance document aims to appraise carriers and clinicians of the issues and best available evidence, and also to define the research agenda that could yield more evidence-informed guidelines.