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Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report
BackgroundGiant axonal neuropathy (GAN) is a rare autosomal recessive, early-onset and fatal neurodegenerative disorder which develops into severe...
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Axonal Transport Defect in Gigaxonin Deficiency Rescued by Tubastatin A
Giant axonal neuropathy (GAN) is a disease caused by a deficiency of gigaxonin, a mediator of the degradation of intermediate filament (IF) proteins....
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Immune-Mediated Axonal Neuropathies
Currently, over 100 causes of polyneuropathy are known, of which 14% to 20% are immune mediated [1, 2]. While these figures are inclusive of...
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Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India
Giant axonal neuropathy (GAN) is a severe and rare autosomal recessive neurodegenerative disorder of childhood affecting both the peripheral and...
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Ischemic Optic Neuropathy
As the name implies, ischemic optic neuropathy results from circulatory insufficiency of the intraocular segment of the optic nerve (anterior...
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Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities
Inherited peripheral neuropathies are a genetically and phenotypically diverse group of disorders that lead to degeneration of peripheral neurons...
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Axonal Transport
Axons are long slender cylindrical projections of neurons that enable these cells to communicate directly with other cells in the body over long...
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Diffusional kurtosis imaging in differentiating nonarteritic anterior ischemic optic neuropathy from acute optic neuritis
PurposeWe aimed to determine the feasibility of using DKI to characterize pathological changes in nonarteritic anterior ischemic optic neuropathy...
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Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion
Giant axonal neuropathy (GAN) is an autosomal recessive disease caused by mutations in the GAN gene encoding gigaxonin. Patients develop a...
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Intravitreal allogeneic mesenchymal stem cells: a non-randomized phase II clinical trial for acute non-arteritic optic neuropathy
BackgroundAn effective treatment for acute non-arteritic ischemic optic neuropathy (NA-AION) has not been known or proven yet. Previous studies have...
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Ischemic Optic Neuropathy
As the name implies, ischemic optic neuropathy results from circulatory insufficiency of the intraocular segment of the optic nerve (anterior...
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Neurologic manifestations of giant cell arteritis
Giant cell arteritis, the most frequent form of vasculitis in persons over 50 years of age, is a granulomatous chronic vasculitis involving large and...
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Using diffuse weighted image and apparent diffusion coefficient in MRI for diagnosis of posterior ischemic optic neuropathy in a young male: a case report and literature review
BackgroundPosterior ischemic optic neuropathy (PION) is a rare cause of visual loss, especially in young patients who are more prone to inflammatory...
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Sciatic Peripheral Neuropathies
Sciatic peripheral neuropathy or sciatic neuropathy is the overarching condition describing the damage, dysfunction, and pathologic changes of the...
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Optic Disc Signs—Cup**, Swelling, Inflammation, and Pallor
Nearly 1.2 million retinal ganglion cell axons converge at the optic disc to exit the eye and form the optic nerve. The morphology of the optic disc...
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Applying the 2022 optic neuritis criteria to noninflammatory optic neuropathies with optic nerve T2-hyperintensity: an observational study
IntroductionRecent diagnostic criteria for optic neuritis include T2-hyperintensity of the optic nerve (ON), even without associated contrast...
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Protein Pyrrole Adducts in Diabetes Mellitus
Diabetes mellitus is commonly associated with a symmetrical, distal sensory or sensorimotor axonal polyneuropathy that develops insidiously and...
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion
Diabetic neuropathy is an incurable disease. We previously identified a mechanism by which aberrant bone marrow-derived cells (BMDCs) pathologically...
