Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron+3 more
wiley +1 more source
Gene therapy targeting SARM1 blocks pathological axon degeneration in mice [PDF]
Axonal degeneration (AxD) following nerve injury, chemotherapy, and in several neurological disorders is an active process driven by SARM1, an injury-activated NADase.
DiAntonio, Aaron+8 more
core +1 more source
Brain Age from the Electroencephalogram of Sleep [PDF]
The human electroencephalogram (EEG) of sleep undergoes profound changes with age. These changes can be conceptualized as "brain age", which can be compared to an age norm to reflect the deviation from normal aging process.
Akeju, Oluwaseun+10 more
core +3 more sources
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier+20 more
wiley +1 more source
The cerebellum contributes to a diverse array of motor conditions, including ataxia, dystonia, and tremor. The neural substrates that encode this diversity are unclear.
Meike E van der Heijden+3 more
doaj +1 more source
EEG-GCNN: Augmenting Electroencephalogram-based Neurological Disease Diagnosis using a Domain-guided Graph Convolutional Neural Network [PDF]
This paper presents a novel graph convolutional neural network (GCNN)-based approach for improving the diagnosis of neurological diseases using scalp-electroencephalograms (EEGs). Although EEG is one of the main tests used for neurological-disease diagnosis, the sensitivity of EEG-based expert visual diagnosis remains at $\sim$50\%.
arxiv
Neurological, Cognitive, and Psychological Findings Among Survivors of Ebola Virus Disease From the 1995 Ebola Outbreak in Kikwit, Democratic Republic of Congo: A Cross-sectional Study. [PDF]
BackgroundClinical sequelae of Ebola virus disease (EVD) have not been described more than 3 years postoutbreak. We examined survivors and close contacts from the 1995 Ebola outbreak in Kikwit, Democratic Republic of Congo (DRC), and determined ...
Bjornson, Zach+15 more
core
Clinical reasoning in canine spinal disease: what combination of clinical information is useful? [PDF]
Spinal disease in dogs is commonly encountered in veterinary practice. Numerous diseases may cause similar clinical signs and presenting histories. The study objective was to use statistical models to identify combinations of discrete parameters from the
ABRAMSON+36 more
core +2 more sources
mTOR-related cell-clearing systems in epileptic seizures, an update [PDF]
Recent evidence suggests that autophagy impairment is implicated in the epileptogenic mechanisms downstream of mTOR hyperactivation. This holds true for a variety of genetic and acquired epileptic syndromes besides malformations of cortical development ...
Biagioni, F+5 more
core +1 more source
Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley+5 more
wiley +1 more source