Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2024
Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.
The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions. ⋯ We initially elucidate LRP12 repeat expansions as a prevalent cause of CMT, highlighting the necessity for an adapted screening strategy in clinical practice, particularly when addressing patients with IPN.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2024
First-trimester use of antiseizure medications and the risk of miscarriage: a population-based cohort study.
Antiseizure medications (ASMs) during the first trimester of pregnancy have been associated with an increased risk of miscarriage. ⋯ We found no clear evidence to suggest that first-trimester ASM use increased the risk of miscarriage. Taken together, our analyses suggest that apparent associations between first-trimester ASM use and miscarriage may be the result of confounding by the presence of a bipolar disorder or associated unmeasured variables.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2024
Rates of cortical thinning in Alzheimer's disease signature regions associate with vascular burden but not with β-amyloid status in cognitively normal adults at age 70.
Consistent patterns of reduced cortical thickness have been identified in early Alzheimer's disease (AD). However, the pathological factors that influence rates of cortical thinning within these AD signature regions remain unclear. ⋯ Cortical thinning within AD signature regions may develop via cerebrovascular pathways. Perhaps reflecting the age of the cohort and relatively low prevalence of Aβ-positivity, robust Aβ-related differences were not detected. Longitudinal follow-up incorporating additional biomarkers will allow assessment of how these relationships evolve closer to expected dementia onset.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2024
ReviewFunctional parcellation of the cingulate gyrus by electrical cortical stimulation: a synthetic literature review and future directions.
The cingulate gyrus (CG), a brain structure above the corpus callosum, is recognised as part of the limbic system and plays numerous vital roles. However, its full functional capacity is yet to be understood. In recent years, emerging evidence from imaging modalities, supported by electrical cortical stimulation (ECS) findings, has improved our understanding. To our knowledge, there is a limited number of systematic reviews of the cingulate function studied by ECS. We aim to parcellate the CG by reviewing ECS studies. ⋯ Our results provide a segmental mapping of the functional properties of CG, helping to improve precision in the surgical planning of epilepsy.