Results 101 to 110 of about 29,975,358 (298)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology
Neurobiology of Disease, 2016 Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve.
Juan Manuel Chao de la Barca +16 more
doaj +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Choroid plexus volume (CPV) has been proposed as a neuro‐immunological marker of multiple sclerosis (MS), but its relevance in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD) remains uncertain. We analyzed CPV in 43 individuals with MOGAD, 48 with MS, and 44 healthy controls using a Bayesian Gaussian mixture modeling ...
Jae‐Won Hyun +4 more
wiley +1 more source
Optic atrophy 1 (OPA1) is over-expressed in brain metastatic breast cancer.
, 2020 Preservation of mitochondrial integrity is essential for prevention of cell death (1, 2). Brain metastases are a clinical problem in patients with breast cancer (3-5). We mined published microarray data (6, 7) to discover genes associated with brain metastasis in patients with brain metastatic breast cancer.
openaire +2 more sources
SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy
The Journal of Clinical InvestigationAutosomal dominant optic atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss.
Chen Ding +10 more
doaj +1 more source
A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family
Journal of Ophthalmology, 2019 Background. To investigate the genetic causes and clinical characteristics of dominant optic atrophy (DOA) in a Chinese family. Methods. A 5-generation pedigree of 35 family members including 12 individuals affected with DOA was recruited from Shenzhen ...
Shaoyi Mei +7 more
doaj +1 more source
High-fat diet causes mitochondrial damage and downregulation of mitofusin-2 and optic atrophy-1 in multiple organs. [PDF]
J Clin Biochem Nutr, 2023 Zheng P +7 more
europepmc +1 more source
Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse +13 more
wiley +1 more source