Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
Influence of oral tobacco versus smoking on multiple sclerosis disease activity and progression.
We aimed to study the influence of smoking habits, exposure to passive smoking and snuff use on disease progression, cognitive performance and quality of life in patients with multiple sclerosis (MS). ⋯ Our findings indicate that both smoking and passive smoking have a negative influence on MS and that smoking cessation post diagnosis may be an important secondary preventive measure. Snuff use was associated with slower disease progression, suggesting that nicotine replacement therapy could be an attractive way to increase the chance of quitting smoking among patients with MS.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
NOTCH2NLC GGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a few NOTCH2NLC-related disease studies in IPN have been reported, and the clinical and genetic spectra remain unclear. Thus, this study aimed to describe the clinical and genetic manifestations of NOTCH2NLC-related IPNs. ⋯ These findings of this study help us understand the clinical heterogeneity of NOTCH2NLC-related disease, such as non-length-dependent motor dominant phenotype and prominent autonomic involvement. This study also emphasise the importance of genetic screening, regardless of the age of onset and type of CMT, particularly in patients of Asian origin, presenting with intermediate conduction velocities and dysautonomia.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
Evidence of publication bias in multiple sclerosis clinical trials: a comparative analysis of published and unpublished studies registered in ClinicalTrials.gov.
Complete and timely publication of clinical trials ensures that patients and the medical community are fully informed when making treatment decisions. The aim of this study is to assess the publication of phase III and IV clinical trials on multiple sclerosis (MS) drugs that have been carried out between 2010 and 2019 and to identify the factors associated with their publication in peer-reviewed journals. ⋯ Phase III and IV clinical trials on MS drugs are prone to under-reporting and publication bias. Efforts must be made to promote a complete and accurate dissemination of data in MS clinical research.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
ReviewUNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited treatment options and an incompletely understood pathophysiology. Although genomewide association studies (GWAS) have advanced our understanding of the disease, the precise manner in which risk polymorphisms contribute to disease pathogenesis remains unclear. Of relevance, GWAS have shown that a polymorphism (rs12608932) in the UNC13A gene is associated with risk for both ALS and frontotemporal dementia (FTD). ⋯ Recent discoveries have identified UNC13A as a potential target for therapy development in ALS, with a confirmatory trial with lithium carbonate in UNC13A cases now underway and future approaches with antisense oligonucleotides currently under consideration. Considering UNC13A is a potent phenotypic modifier, it may also impact clinical trial outcomes. This present review describes the path from the initial discovery of UNC13A as a risk gene in ALS to the current therapeutic options being explored and how knowledge of its distinct phenotype needs to be taken into account in future trials.