Ophthalmic manifestations and genetics of the polyglutamine autosomal dominant spinocerebellar ataxias: a review

JY Park, K Joo, SJ Woo - Frontiers in Neuroscience, 2020 - frontiersin.org
Spinocerebellar ataxia (SCA) is a part of the cerebellar neurodegenerative disease group
that is diverse in genetics and phenotypes. It usually shows autosomal dominant …

[HTML][HTML] Spinocerebellar ataxia type 1

P Opal, T Ashizawa - 2017 - europepmc.org
Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia,
dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected …

OCT parameters of the optic nerve head and the retina as surrogate markers of brain volume in a normal population, a pilot study

AJ Mejia-Vergara, R Karanjia, AA Sadun - Journal of the Neurological …, 2021 - Elsevier
The relationship between optical coherence tomography (OCT) measurements of the retinal
structures has been described for various neurological diseases including Multiple Sclerosis …

Macular morpho-functional and visual pathways functional assessment in patients with spinocerebellar type 1 ataxia with or without neurological signs

L Ziccardi, E Cioffi, L Barbano, V Gioiosa… - Journal of Clinical …, 2021 - mdpi.com
Spinocerebellar ataxia type 1 (SCA-ATXN1) is an autosomal dominant, neurodegenerative
disease, caused by CAG repeat expansion in the ataxin-1 gene (ATXN1). In isolated reports …

Characterization of retinal architecture in spinocerebellar ataxia type 3 and correlation with disease severity

FM Rezende Filho, N Jurkute… - Movement …, 2022 - Wiley Online Library
Background Neurodegeneration affects the brain and peripheral nervous system in
spinocerebellar ataxia type 3 (SCA3). As the retina is also involved, studying the retinal …

Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2

FM Rezende Filho, N Jurkute… - Movement …, 2024 - Wiley Online Library
Background ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has
been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 …

Microvascular breakdown due to retinal neurodegeneration in ataxias

CA Turski, GN Turski, J Faber, SJ Teipel… - Movement …, 2022 - Wiley Online Library
Background Neurodegenerative ataxias are devastating disorders of the cerebellum and
spinal cord, accompanied by death of retinal ganglion cells, leading to relentlessly …

Hereditary Optic Neuropathies: An Updated Review

SK Lee, C Mura, NJ Abreu, JC Rucker… - Journal of Clinical & …, 2024 - mdpi.com
Hereditary optic neuropathies (HONs) are a class of genetic disorders that may lead to
vision loss due to either acute or progressive injury to the optic nerve. Although HONs may …

Untersuchung des Neurometabolismus bei Patienten mit Spinozerebellärer Ataxie Typ 14 und Typ 1 durch 1H Magnetresonanzspektroskopie

AS Grosch - 2021 - refubium.fu-berlin.de
Die autosomal-dominant vererbten Spinozerebellären Ataxien sind eine Gruppe
neurodegenerativer Erkrankungen, die durch eine progrediente Ataxie gekennzeichnet …

Advanced retinal optical coherence tomography image analysis in neuroinflammatory disorders

S Motamedi - 2021 - refubium.fu-berlin.de
Die retinale optische Kohärenztomographie (OCT) ist ein vielversprechender Biomarker bei
neurodegenerativen und neuroinflammatorischen Erkrankungen. Multiple Sklerose (MS) …