Results 81 to 90 of about 67,593 (295)
, 1971 Presenting Symptom: Optic atrophy. Pathology: Optic disk pallor. Pallor of the temporal side of the disc - the hallmark of partial optic atrophy - is not always easy to differentiate from the normal appearance of the disc.
David G. Cogan, MD (1908-1993)
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source
Frontiers in NeurologyBackgroundHIST1H1E syndrome is caused by frameshift variants in the HIST1H1E gene; while strabismus and refractive errors have been previously reported, this is the first case describing optic and cerebellar atrophy in an affected individual to our ...
Zinnia Sen Yen Lai +6 more
doaj +1 more source
, 2005 Optic atrophy is not a disease. It is a nonspecific morphologic end point of disease (any disease) that causes damage to ganglion cells and axons of the optic nerve.
Alfredo A. Sadun, MD, PhD; Madhu R. Agarwal, MD
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
Visual Function in Optic Atrophy
, 1999 Optic nerve pallor corresponds histologically to atrophy of the optic nerve fibers. Although ophthalmologists and other eye care specialists commonly evaluate patients with optic atrophy, we are unaware of published studies correlating the severity of ...
Lenworth N. Johnson; Christine A. DeWitt; Dana B. Schoenleber; Dean P. Hainsworth; Richard W. Madsen
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Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
, 2008 There is a need for sensitive measures of disease progression in multiple sclerosis (MS) to monitor treatment effects and understand disease evolution. MRI measures of brain atrophy have been proposed for this purpose. This thesis investigates a number
Anderson, V.
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-Thalamic atrophy in infants with PVL and cerebral visual impairment
, 2006 The aim of this retrospective study was to establish the presence and severity of cerebral visual impairment in preterm infants with PVL. We also wished to establish whether abnormalities of visual function are related to brain MRI findings and more ...
Cesarini, L +24 more
core +1 more source