Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2023
Genetically determined serum serine level has a novel causal effect on multiple sclerosis risk and predicts disability progression.
There are currently no specific biomarkers for multiple sclerosis (MS). Identifying robust biomarkers for MS is crucial to improve disease diagnosis and management. ⋯ These findings support investigating serine as an important candidate biomarker for MS onset and disability progression.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2023
Multicenter StudySpinal cord reserve in multiple sclerosis.
The spinal cord (SC) is a preferential target of multiple sclerosis (MS) damage highly relevant towards disability. Differential impact of such damage could be due to the initial amount of SC tissue, as described for the brain parenchyma (brain reserve concept). We aimed to test the existence of SC reserve by using spinal canal area (SCaA) as a proxy. ⋯ A larger SCaA may be protective against disability in MS, possibly supporting the existence of SC reserve.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2023
Gene-environment interactions increase the risk of paediatric-onset multiple sclerosis associated with household chemical exposures.
We previously reported an association between household chemical exposures and an increased risk of paediatric-onset multiple sclerosis. ⋯ The presence of gene-environment interactions with household toxins supports their possible causal role in paediatric-onset multiple sclerosis.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2023
Observational StudyPrognostic biomarkers in prodromal α-synucleinopathies: DAT binding and REM sleep without atonia.
Isolated rapid eye movement (REM) sleep behaviour disorder (iRBD) is a prodromal state of clinical α-synucleinopathies such as Parkinson's disease and Lewy body dementia. The lead-time until conversion is unknown. The most reliable marker of progression is reduced striatal dopamine transporter (DAT) binding, but low availability of imaging facilities limits general use. Our prospective observational study aimed to relate metrics of REM sleep without atonia (RWA)-a hallmark of RBD-to DAT-binding ratios in a large, homogeneous sample of patients with RBD to explore the utility of RWA as a marker of progression in prodromal α-synucleinopathies. ⋯ In this large single-centre prospective observational study, we found evidence that DAT-binding ratios in patients with iRBD can be used to describe a continuum in the neurodegenerative process. Overlap with non-synucleinopathies and clinical α-synucleinopathies, however, precludes the use of DAT-binding ratios as a precise diagnostic marker. The parallel course of RWA metrics and DAT-binding ratios suggests in addition to existing data that RWA, part of the routine diagnostic workup in these patients, may represent a marker of progression. Based on our findings, we suggest ranges of RWA values to estimate whether patients are in an early, medium or advanced state within the prodromal phase of α-synucleinopathies, providing them with important information about time until possible conversion.