Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Moving past the usual suspects: a new framework for aural fullness. [PDF]
Braz J OtorhinolaryngolBittar RSM, Mangia LRL, Mezzalira R.
europepmc +1 more source
Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein +13 more
wiley +1 more source
Exploratory Analysis of Sleep-Wake Rhythms and Sensory Processing in School-Aged Children with Autistic Spectrum Disorder: An Actigraphic Study. [PDF]
Pediatric Health Med TherKondo Y +4 more
europepmc +1 more source
Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro +10 more
wiley +1 more source
Relationships Between Polygenic Scores for Psychopathology and Observed Psychopathology Are Mediated by Cognitive Control and Reward Sensitivity Pathways: Insights From the ABCD Study. [PDF]
Biol Psychiatry Glob Open SciHoward AK, Gustavson DE, Friedman NP.
europepmc +1 more source
Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu +10 more
wiley +1 more source
Agency, Environmental Scaffolding, and the Development of Eating Disorders - Commentary on Rodemeyer [PDF]
, 2020 Krueger, Joel, Osler, Lucy
core
Effects of Biological Sex and Age on Cerebrospinal Fluid Markers—A Retrospective Observational Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebrospinal fluid (CSF) analysis is a key diagnostic tool for neurological diseases. To date, only a few studies have investigated in larger cohorts the effect of age and biological sex on diagnostic markers extracted from CSF. Methods For this retrospective observational study, 4163 CSF findings (2012–2020) were evaluated.
Isabel‐Sophie Hafer +3 more
wiley +1 more source