Translation, adaptation and validation of an epilepsy screening instrument in two Ghanaian languages.

Introduction: The prevalence of epilepsy in sub-Saharan Africa varies considerably, and the exact estimate for Ghana remains unclear, particularly in peri-urban areas where data are scarce. More community-based studies are required to understand better the actual burden of epilepsy in these areas and the difficulties in accessing healthcare.

Objective: To adapt and validate a household survey epilepsy-screening instrument in Shai-Osudoku and Ningo-Prampram District of Greater Accra Region, Ghana.

Long-term memory plasticity in a decade-long connectivity study post anterior temporal lobe resection.

Approximately 40% of individuals undergoing anterior temporal lobe resection for temporal lobe epilepsy experience episodic memory decline. There has been a focus on early memory network changes; longer-term plasticity and its impact on memory function are unclear. Our study investigates neural mechanisms of memory recovery and network plasticity over nearly a decade post-surgery.

The Role of Social Determinants of Health in Childhood Epilepsy.

Social determinants of health (SDHs) are significant and potentially modifiable drivers of neurologic diseases, including childhood epilepsy. Social determinants of health greatly influence the epidemiology, management, and outcomes associated with these conditions. Social determinants of health affect every aspect of a family's journey with epilepsy-from initial diagnosis to accessing effective treatments and ongoing care.

Correction: Decision-Making, Pro-variance Biases and Mood-Related Traits.

[This corrects the article DOI: 10.5334/cpsy.114.

Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo.

The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is an intronic GC repeat expansion in C9orf72. The repeats undergo bidirectional transcription to produce sense and antisense repeat RNA species, which are translated into dipeptide repeat proteins (DPRs). As toxicity has been associated with both sense and antisense repeat-derived RNA and DPRs, targeting both strands may provide the most effective therapeutic strategy.

Effects of Route Complexity and Lighting on Route Following in Alzheimer's Disease and Posterior Cortical Atrophy.

Objective: Visual processing deficits arising in dementia are associated with particular functional disability. This study aimed to investigate the effects of the built environment on mobility and navigation in people with dementia-related visual loss.

Methods: Participants with posterior cortical atrophy (PCA; "visual-variant Alzheimer's"; n = 11), typical Alzheimer's disease (tAD; N = 10), and controls (n = 13) repeatedly walked down routes within a simplified real-world setting.

Ultrasensitive Protein Aggregate Quantification Assays for Neurodegenerative Diseases on the Simoa Platform.

Nanoscale aggregates play a key role in the pathogenesis of neurodegenerative disorders such as Alzheimer's and Parkinson's disease. However, quantifying these aggregates in complex biological samples, such as biofluids and postmortem brain tissue, has been challenging due to their low concentration and small size, necessitating the development of methods with high sensitivity and specificity. Here, we have developed ultrasensitive assays utilizing the Quanterix Simoa platform to detect α-synuclein, β-amyloid and tau aggregates, including those with common posttranslational modifications such as truncation of α-synuclein and AT8 phosphorylation of tau aggregates.

Alpha rhythm slowing in temporal lobe epilepsy across scalp EEG and MEG.

EEG slowing is reported in various neurological disorders including Alzheimer's, Parkinson's and Epilepsy. Here, we investigate alpha rhythm slowing in individuals with refractory temporal lobe epilepsy compared with healthy controls, using scalp EEG and magnetoencephalography. We retrospectively analysed data from 17 (46) healthy controls and 22 (24) individuals with temporal lobe epilepsy who underwent scalp EEG and magnetoencephalography recordings as part of presurgical evaluation.

The association of polytherapy and psychiatric comorbidity in epilepsy.

Purpose: Managing epilepsy may require using more than one anti-seizure medication (ASM). While combination therapy may help, risks, including psychiatric problems, are not fully explored in Africa. We examined the relationship between polytherapy and psychiatric comorbidities among attendees of an epilepsy community clinic.

IAPRD new consensus classification of myoclonus.

Introduction: Recent new advances in myoclonus characterization and etiology justify an update of the 40-year-old respected classification of myoclonus proposed by Marsden, Hallett, and Fahn. New advances include genetic studies and clinical neurophysiology characterization.

Methods: The IAPRD appointed an expert panel to develop a new myoclonus classification.

Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.

Aminoacyl-tRNA synthetases (ARSs) couple tRNAs with their corresponding amino acids. While ARSs can bind structurally similar amino acids, extreme specificity is ensured by subsequent editing activity. Yet, we found that upon isoleucine (I) restriction, healthy fibroblasts consistently incorporated valine (V) into proteins at isoleucine codons, resulting from misacylation of tRNAIle with valine by wildtype IARS1.

Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease.

Over the past two decades there has been increased interest in orphan drug development for rare diseases. However, hurdles to clinical trial design for these disorders remain. This phase 1a/1b study addressed several challenges, while evaluating the safety and tolerability of the novel oral molecule KL1333 in healthy volunteers and subjects with primary mitochondrial disease.

Age- and amyloid-β-dependent initiation of neurofibrillary tau tangles: an improved mouse model of Alzheimer's disease without mutations in .

Introducing heterozygous humanized tau to App knock-in mice results in the first mouse model of Alzheimer's disease in which age and amyloid-β pathology interact to initiate neurofibrillary tau tangle pathology, not dependent on mutations in MAPT. Gradual progression from amyloid-β to tau pathology in NLFTau mice opens possibilities for understanding processes precipitating clinical stages of Alzheimer's disease and development of translatable therapies to prevent the onset of tau pathology.

Measuring brain perfusion by CT or MR as ancillary tests for diagnosis of brain death: a systematic review and meta-analysis.

Objectives: To gather and synthesize evidence regarding diagnostic accuracy of perfusion imaging by CT (CTP) or MR (MRP) for brain death (BD) diagnosis.

Methods: A systematic review and meta-analysis was prospectively registered with PROSPERO (CRD42022336353) and conducted in accordance with the PRISMA guidelines and independently by 3 reviewers. PubMed/MEDLINE, EMBASE and Cochrane Database were searched for relevant studies.

Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic diagnosis remains scarce and inconsistent in middle-income countries such as Brazil.

Decomposing dynamical subprocesses for compositional generalization.

A striking feature of human cognition is an exceptional ability to rapidly adapt to novel situations. It is proposed this relies on abstracting and generalizing past experiences. While previous research has explored how humans detect and generalize single sequential processes, we have a limited understanding of how humans adapt to more naturalistic scenarios, for example, complex, multisubprocess environments.

Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (). This study further delineates the disease characteristics in a cohort of 20 individuals diagnosed through genome or exome sequencing, incorporating neurophysiological, laboratory and imaging data, along with data from previously reported cases across three different studies. Newly reported clinical features include hypermobility/hyperlaxity, axial weakness, dysmorphic signs, asymmetric presentation, dystonic features and, notably, upper motor neuron signs.

A digital dashboard for reporting mental, neurological and substance use disorders in Nairobi, Kenya: Implementing an open source data technology for improving data capture.

The availability of quality and timely data for routine monitoring of mental, neurological and substance use (MNS) disorders is a challenge, particularly in Africa. We assessed the feasibility of using an open-source data science technology (R Shiny) to improve health data reporting in Nairobi City County, Kenya. Based on a previously used manual tool, in June 2022, we developed a digital online data capture and reporting tool using the open-source Kobo toolbox.

Rehabilitating homonymous visual field deficits: white matter markers of recovery-stage 1 registered report.

Damage to the primary visual cortex (V1) or its afferent white matter tracts results in loss of vision in the contralateral visual field that can present as homonymous visual field deficits. Recent evidence suggests that visual training in the blind field can partially reverse blindness at trained locations. However, the efficacy of visual training to improve vision is highly variable across subjects, and the reasons for this are poorly understood.

Isotope Encoded chemical Imaging Identifies Amyloid Plaque Age Dependent Structural Maturation, Synaptic Loss, and Increased Toxicity.

It is of critical importance to our understanding of Alzheimer's disease (AD) pathology to determine how key pathological factors are interconnected and implicated in nerve cell death, clinical symptoms, and disease progression. The formation of extracellular beta-amyloid (Aβ) plaques is the major pathological hallmark of AD and Aβ has been suggested to be a critical inducer of AD, driving disease pathogenesis. Exactly how Aβ plaque formation begins and how ongoing plaque deposition proceeds and initiates subsequent neurotoxic mechanisms is not well understood.