Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jan 2025
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. · Jan 2025
Meta AnalysisDirectional deep brain stimulation electrodes in Parkinson's disease: meta-analysis and systematic review of the literature.
Since their introduction in 2015, directional leads have practically replaced conventional leads for deep brain stimulation (DBS) in Parkinson's disease (PD). Yet, the benefits of directional DBS (dDBS) over omnidirectional DBS (oDBS) remain unclear. This meta-analysis and systematic review compares the literature on dDBS and oDBS for PD. ⋯ CRD42023438056.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2025
ReviewFunctional pathology of neuroleptic-induced dystonia based on the striatal striosome-matrix dopamine system in humans.
Neuroleptic-induced dystonia is a source of great concern in clinical practice because of its iatrogenic nature which can potentially lead to life-threatening conditions. Since all neuroleptics (antipsychotics) share the ability to block the dopamine D2-type receptors (D2Rs) that are highly enriched in the striatum, this drug-induced dystonia is thought to be caused by decreased striatal D2R activity. However, how associations of striatal D2R inactivation with dystonia are formed remains elusive. ⋯ The article proposes a functional pathology of the striosome-matrix dopamine system for neuroleptic-induced acute dystonia or neuroleptic-withdrawal dystonia. A rationale for the effectiveness of dopaminergic or cholinergic pharmacotherapy is also provided for treating dystonias. This narrative review covers various aspects of the relevant field and provides a detailed discussion of the mechanisms of neuroleptic-induced dystonia.
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Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a heterogeneous but clinically well-described disease within circumscribed parameters. It is immunologically mediated through several poorly understood mechanisms. ⋯ Our understanding of many of the key pathological processes in autoimmune diseases is expanding, and novel targeted therapeutics are being developed with promise in several autoimmune neurological disorders. This narrative review looks first at detailing key pathogenic mechanisms of disease in CIDP, followed by an in-depth description of potential novel therapies and the current evidence of their application in clinical practice.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2024
Paternal exposure to antiseizure medications and offspring outcomes: a systematic review.
Concerns have recently been raised about risks to the fetus resulting from paternal exposure to antiseizure medications (ASMs). To address these concerns, we conducted a systematic review of the literature to assess neurodevelopmental and anatomical outcomes in offspring born to fathers taking ASMs at the time of conception. ⋯ Although there were limited data available, this systematic review provides reassuring evidence that paternal exposure to ASMs at conception is unlikely to pose any major risk of adverse outcomes for the offspring. Further research is needed to examine the relationship between preconception ASM use in males and offspring outcomes at birth and postnatally.