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Updated: Sep 22, 2025
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Altered retinal structure and function in Spinocerebellar ataxia type 3
Vasileios Toulis1, Ricardo Casaroli-Marano2, Anna Camós-Carreras3
1Department of Neurology, Michigan Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona 08028, Spain; CIBERER, ISCIII, Universitat de Barcelona, Barcelona 08028, Spain.
Spinocerebellar ataxia type 3 (SCA3) patients show retinal changes, including reduced macular thickness and vision dysfunction, correlating with disease severity. These findings in SCA3 patients and mice suggest retinal imaging can track disease progression.
Area of Science:
- Neuroscience
- Ophthalmology
- Genetics
Background:
- Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder linked to ATXN3 gene CAG repeat expansion.
- The ATXN3 protein's role in photoreceptor function suggests potential retinal involvement in SCA3.
Purpose of the Study:
- To investigate retinal structure and function in SCA3 patients and a transgenic mouse model.
- To explore the correlation between retinal alterations and SCA3 disease progression and severity.
Main Methods:
- Optical coherence tomography (OCT) and electroretinogram (ERG) were used in five SCA3 patients and YACMJD84.2 (Q84) transgenic mice.
- Immunofluorescence (IF) and transmission electron microscopy (TEM) analyzed retinal structure and ATXN3 aggregate distribution in mice.
Main Results:
- SCA3 patients exhibited reduced macular thickness and ganglion cell layer thickness, correlating with disease duration and severity (SARA score).
- Patients showed electrophysiological dysfunction in cones, rods, and inner retinal cells.
- Transgenic mice models mirrored human findings, displaying progressive ATXN3 aggregation, cone depletion, and severe retinal dysfunction.
Conclusions:
- Retinal alterations detected by OCT and ERG may serve as biomarkers for SCA3 disease progression and severity.
- Expanded polyglutamine ATXN3 significantly impacts retinal integrity and function in SCA3.
