Brain
@Brain1878
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Brain: A Journal of Neurology. Publishing leading studies in neurological science since 1878.
London
Joined January 2014
Laurini et al. review genes that can give rise to both neuropathic and myopathic phenotypes, challenging the traditional divide between nerve and muscle disorders. https://t.co/AhvgBiYps1
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De Marchi et al. used FDG-PET and machine learning to examine neuropsychological and metabolic differences across the ALS-FTD spectrum, revealing distinct cognitive profiles and patterns of brain hypometabolism. https://t.co/QN70vtyxNz
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Somervail et al. show that surprising sensory stimuli – eg loud beeps – activate much more of the brain than previously thought, through a long-overlooked pathway called the extralemniscal system, with implications for basic and clinical neuroscience. https://t.co/FB1lNJv9Q0
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Jiao et al. show that GGC repeat expansions in GIPC1 cause oculopharyngodistal myopathy type 2 through repeat-associated non-AUG translation. This process generates a polyglycine protein that forms toxic aggregates, leading to cell death. https://t.co/P89dhTEI3J
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Coray et al. found reduced hippocampal grey matter volume in regular MDMA users, which correlated with memory deficits and 5-HT receptor maps, suggesting that MDMA-related memory problems stem from both structural and neurochemical changes. https://t.co/VNphqD85An
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By analysing post-mortem brain tissue, Asby et al. found that reduced blood supply in AD promotes the growth of new but leaky blood vessels. These vascular changes are widespread even in the early stages of the disease and worsen as pathology accumulates. https://t.co/eCncjMkuuG
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Meng et al. investigate the use of antisense oligonucleotides to treat sensory neuropathy resulting from SPTLC1 mutations. In a mouse model, allele-specific ASOs selectively silenced the mutant transcript, providing proof of concept for this approach. https://t.co/K9zyqLg6LN
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Ayton et al. summarise recent clinical trial results showing negative effects of iron chelators in AD and PD, and discuss how these findings recast the role of brain iron in health and disease. https://t.co/BvG1aP3beX
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Bi et al. report that an expanded variable number of tandem repeats in intron 10 of the HSF1 gene contributes to genetic risk for essential tremor. https://t.co/XtxKkCKLCL
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Using cell culture and animal models of prion disease, Homma et al. show that activation of oligoadenylate synthetase 1a (Oas1a)—an interferon-stimulated gene downstream of the type I interferon receptor—suppresses prion invasion at an early stage. https://t.co/JEEcBNlD1o
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Mitchell et al. explore normative modelling as a transformative approach to TBI. By comparing individuals to reference cohorts, this method overcomes the limitations of traditional classification systems, enabling personalized treatment strategies. https://t.co/yNehKBQFh9
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Choo et al. show that damage to the medial temporal lobe – particularly the hippocampus – reduces the precision of memory for fine visual details, underscoring the role of this region in maintaining the fidelity of visual working memory representations. https://t.co/JpskJKjRnc
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Have you listened to the latest episode of the Brain podcast? Do seizures drive the neuropathology of dementia? Featuring a discussion with Dr Ifrah Zawar on: The association of seizure control with neuropathology in dementia. Listen here: https://t.co/sisrZYfhre
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Trentini et al. discuss how brain glycogen – beyond serving as an energy reserve – also regulates protein glycosylation and neurotransmitter balance. https://t.co/sWOjkmWVi5
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Morris et al. identify a common behavioural signature of apathy in AD and PD: a decision bias towards rejecting the option to exert physical effort for reward, associated with altered rs functional connectivity within the dorsal attention network. https://t.co/YJcbR70Sut
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Liu et al. show that cutaneous α-synuclein signatures differ between brain-first and body-first subtypes of PD, providing further support for this model and highlighting the value of skin biopsy as a minimally invasive biomarker for disease subtyping. https://t.co/lftlj148Sw
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Ottoboni et al. review the role of inflammation in SMA, showing that immune responses play a key role in disease progression. They argue that combining anti-inflammatory approaches with SMN-restoring therapies could improve outcomes. https://t.co/qzJPMxibk1
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In a UK population-based cohort of 701 people carrying the C9orf72 hexanucleotide repeat expansion, Gao et al. found that 66% developed ALS or dementia by age 80, with implications for genetic counselling. https://t.co/Y9EJZNMFQU
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Understanding sensory abnormalities in fibromyalgia through autoantibodies New scientific commentary by Andreas Themistocleous, Steven Middleton & John Dawes https://t.co/wixUXxMs1b
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