Drug-resistant epilepsy: Definition, pathophysiology, and management
There are currently>51 million people with epilepsy (PWE) in the world and every year>4.9 million people develop new-onset epilepsy. The cornerstone of treatment in PWE is drug therapy with antiseizure medications (ASMs). However, about one-third of PWE do not achieve seizure control and do not respond well to drug therapy despite the use of appropriate ASMs [drug-resistant epilepsy (DRE)]. The aims of the current narrative review are to discuss the definition of DRE, explain the biological underpinnings and clinical biomarkers of this condition, and finally to suggest practical management strategies to tackle this issue a...
Source: Journal of the Neurological Sciences - August 14, 2023 Category: Neurology Authors: Boulenouar Mesraoua, Francesco Brigo, Simona Lattanzi, Bassel Abou-Khalil, Hassan Al Hail, Ali A. Asadi-Pooya Tags: Review Article Source Type: research

Healthcare resource utilization at different stages of amyotrophic lateral sclerosis: Results from a real-world survey
People with amyotrophic lateral sclerosis (pALS) require complex, multi-disciplinary care, resulting in extensive healthcare resource utilization (HCRU). To investigate the relationship between HCRU and ALS progression, the study objectives were (i) to characterize HCRU in pALS and (ii) to establish whether this varied according to disease stage, as defined using three different methodologies: neurologist-defined early/mid/late stage, the King's clinical staging system for ALS, and the Milan Torino Staging system for ALS (MiToS). (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - August 11, 2023 Category: Neurology Authors: Katie Stenson, Lasair O'Callaghan, Jennifer Mellor, Jack Wright, Gregor Gibson, Lucy Earl, Sophie Barlow, Christina Nicole Fournier Source Type: research

Graph network measures reveal distinct white matter abnormalities in motor and extra-motor brain regions of two UMN-predominant ALS subtypes
Routine clinical magnetic resonance imaging (MRI) shows bilateral corticospinal tract (CST) hyperintensity in some patients with upper motor neuron (UMN)-predominant ALS (ALS-CST+) but not in others (ALS-CST –). Although, similar in their UMN features, the ALS-CST+ patient group is significantly younger in age, has faster disease progression and shorter survival than the ALS-CST– patient group. Reasons for the differences are unclear. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - August 9, 2023 Category: Neurology Authors: Venkateswaran Rajagopalan, Erik P. Pioro Source Type: research

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease
NOTCH3 is the causative gene for autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) which is associated with both stroke and dementia. When CADASIL presents primarily as dementia it can be difficult to distinguish from Alzheimer's disease (AD) at both the clinical and neuropathological levels. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - August 7, 2023 Category: Neurology Authors: Olena Korvatska, Stephanie A. Bucks, Rebecca A. Yoda, Amber Nolan, Michael O. Dorschner, Debby Tsuang, Suman Jayadev, Wendy H. Raskind, Thomas D. Bird Source Type: research

MUC17 mutations and methylation are associated with poor prognosis in adult-type diffuse glioma patients
Diffuse gliomas are tumors that arise from glial or glial progenitor cells. They are currently classified as astrocytoma isocitrate dehydrogenase (IDH)-mutant or oligodendroglioma IDH-mutant, and 1p/19q-codeleted, both slower-growing tumors, or glioblastoma (GBM), a more aggressive tumor. Despite advances in the diagnosis and treatment of gliomas, the median survival time after diagnosis of GBM remains low, approximately 15  months, with a 5-year overall survival rate of only 6.8%. Therefore, new biomarkers that could support the earlier diagnosis and prognosis of these tumors would be of great value. (Source: Journal of...
Source: Journal of the Neurological Sciences - August 2, 2023 Category: Neurology Authors: Gabriel Cardoso Machado, Val éria Pereira Ferrer Source Type: research