Journal of neurology, neurosurgery, and psychiatry
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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.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2024
Risk of fall with device-based advanced treatments in Parkinson's disease: a systematic review and network meta-analysis.
Deep brain stimulation (DBS) and infusion therapies are effective treatments for the motor complications of Parkinson's disease (PD), but less established is their role in fall prevention. This systematic review and network meta-analysis (NMA) aimed to evaluate the risk of falls associated with advanced therapies in PD. ⋯ CRD42023420637.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2024
Observational StudyData-driven sequence of cognitive decline in people with Parkinson's disease.
Understanding the sequential progression of cognitive impairments in Parkinson's disease (PD) is crucial for elucidating neuropathological underpinnings, refining the assessment of PD-related cognitive decline stages and enhancing early identification for targeted interventions. The first aim of this study was to use an innovative event-based modeling (EBM) analytic approach to estimate the sequence of cognitive declines in PD. The second aim was to validate the EBM by examining associations with EBM-derived individual-specific estimates of cognitive decline severity and performance on independent cognitive screening measures. ⋯ Findings from this study will have important clinical implications for practitioners, on specific cognitive tests to prioritise, when conducting neuropsychological evaluations with people with PD. Results also highlight the importance of frontal-subcortical system disruption impacting executive and visuospatial abilities.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2024
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the complete sequencing of FGF14 repeat expansion to elucidate its repeat motifs and pathogenicity. ⋯ FGF14 repeat expansion has unique features of pathogenicity and allelic origin, as revealed by a single ethnic study.