Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2022
ReviewCerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth.
Somatic gain-of-function (GOF) mutations in phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), the catalytic subunit of phosphoinositide 3-kinase (PI3K), have been recently discovered in cerebral cavernous malformations (CCMs), raising the possibility that the activation of PI3K pathways is a possible universal regulator of vascular morphogenesis. However, there have been contradicting data presented among various groups and studies. ⋯ This paper reviews and attempts to conceptualise the relationships and differences among clinical presentations, genotypic and phenotypic correlations and possible coexistence of PIK3CA and CCM mutations/phenotypes in CCM lesions. Finally, we present a model reflecting our hypothetical understanding of CCM pathogenesis based on a systematic review and conceptualisation of data obtained from other studies.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2022
Neurocognitive functioning and symptoms across levels of collision and contact in male high school athletes.
We sought to determine whether male collision sport athletes perform worse on computerised neurocognitive assessments and report higher symptom burdens than athletes in contact (but not collision) sports and athletes in non-contact sports. ⋯ There are minimal observed differences in performance on neurocognitive assessments between collision sport, contact sport and non-contact sport athletes. The repetitive subconcussive head impacts associated with collision sport participation do not appear to negatively affect self-reported symptoms or neurocognitive functioning in current youth athletes.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2022
Serum GFAP differentiates Alzheimer's disease from frontotemporal dementia and predicts MCI-to-dementia conversion.
Reactive astrogliosis is a hallmark of Alzheimer's disease (AD) and frontotemporal dementia (FTD) but differences between the diseases and time course are unclear. Here, we used serum levels of the astroglial marker glial fibrillary acidic protein (GFAP) to investigate differences in patients with AD dementia, mild cognitive impairment (MCI)-AD and behavioural variant FTD (bvFTD). ⋯ Our data indicate a different type of reactive astrogliosis in AD and bvFTD and support serum GFAP as biomarker for differential diagnosis and prediction of MCI-to-dementia conversion.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2022
Stroke outcome of early antiplatelet in post-thrombolysis haemorrhagic infarction.
Initiation of early antiplatelet (EA) therapy after acute ischaemic stroke (AIS) is essential. We aimed to investigate the safety and effectiveness of EA therapy in patients who had an AIS with haemorrhagic infarction (HI) after intravenous thrombolysis (IVT). ⋯ Antiplatelet therapy can be safely used between 24 and 48 hours when HI occurs after IVT, and such therapy is associated with reduced risk of END and improved neurological outcome in patients who had an AIS.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2022
Functional tremor developing after successful MRI-guided focused ultrasound thalamotomy for essential tremor.
To describe a case of functional tremor occurring after a successful MR-guided focused ultrasound thalamotomy (MRgFUS) for essential tremor. ⋯ We describe the first reported case of a functional movement disorder occurring after successful MRgFUS procedure for essential tremor. Recognising this entity and its development after such therapeutic interventions is essential to avoid further unnecessary invasive therapies.