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Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cγ (PKCγ). The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate...

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Autores principales: Ihl, Thomas, Kadas, Ella M., Oberwahrenbrock, Timm, Endres, Matthias, Klockgether, Thomas, Schroeter, Jan, Brandt, Alexander U., Paul, Friedemann, Minnerop, Martina, Doss, Sarah, Schmitz-Hübsch, Tanja, Zimmermann, Hanna G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351844/
https://www.ncbi.nlm.nih.gov/pubmed/32338350
http://dx.doi.org/10.1007/s12311-020-01130-w
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author Ihl, Thomas
Kadas, Ella M.
Oberwahrenbrock, Timm
Endres, Matthias
Klockgether, Thomas
Schroeter, Jan
Brandt, Alexander U.
Paul, Friedemann
Minnerop, Martina
Doss, Sarah
Schmitz-Hübsch, Tanja
Zimmermann, Hanna G.
author_facet Ihl, Thomas
Kadas, Ella M.
Oberwahrenbrock, Timm
Endres, Matthias
Klockgether, Thomas
Schroeter, Jan
Brandt, Alexander U.
Paul, Friedemann
Minnerop, Martina
Doss, Sarah
Schmitz-Hübsch, Tanja
Zimmermann, Hanna G.
author_sort Ihl, Thomas
collection PubMed
description Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cγ (PKCγ). The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate for the first time visual function and retinal morphology in patients with SCA-PRKCG. Seventeen patients with PRKCG variants and 17 healthy controls were prospectively recruited, of which 12 genetically confirmed SCA-PRKCG patients and 14 matched controls were analyzed. We enquired a structured history for visual symptoms. Vision-related quality of life was obtained with the National Eye Institute Visual Function Questionnaire (NEI-VFQ) including the Neuro-Ophthalmic Supplement (NOS). Participants underwent testing of visual acuity, contrast sensitivity, visual fields, and retinal morphology with optical coherence tomography (OCT). Measurements of the SCA-PRKCG group were analyzed for their association with clinical parameters (ataxia rating and disease duration). SCA-PRKCG patients rate their vision-related quality of life in NEI-VFQ significantly worse than controls. Furthermore, binocular visual acuity and contrast sensitivity were worse in SCA-PRKCG patients compared with controls. Despite this, none of the OCT measurements differed between groups. NEI-VFQ and NOS composite scores were related to ataxia severity. Additionally, we describe one patient with a genetic variant of uncertain significance in the catalytic domain of PKCγ who, unlike all confirmed SCA-PRKCG, presented with a clinically silent epitheliopathy. SCA-PRKCG patients had reduced binocular vision and vision-related quality of life. Since no structural retinal damage was found, the pathomechanism of these findings remains unclear. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12311-020-01130-w) contains supplementary material, which is available to authorized users.
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spelling pubmed-73518442020-07-14 Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14 Ihl, Thomas Kadas, Ella M. Oberwahrenbrock, Timm Endres, Matthias Klockgether, Thomas Schroeter, Jan Brandt, Alexander U. Paul, Friedemann Minnerop, Martina Doss, Sarah Schmitz-Hübsch, Tanja Zimmermann, Hanna G. Cerebellum Original Article Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cγ (PKCγ). The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate for the first time visual function and retinal morphology in patients with SCA-PRKCG. Seventeen patients with PRKCG variants and 17 healthy controls were prospectively recruited, of which 12 genetically confirmed SCA-PRKCG patients and 14 matched controls were analyzed. We enquired a structured history for visual symptoms. Vision-related quality of life was obtained with the National Eye Institute Visual Function Questionnaire (NEI-VFQ) including the Neuro-Ophthalmic Supplement (NOS). Participants underwent testing of visual acuity, contrast sensitivity, visual fields, and retinal morphology with optical coherence tomography (OCT). Measurements of the SCA-PRKCG group were analyzed for their association with clinical parameters (ataxia rating and disease duration). SCA-PRKCG patients rate their vision-related quality of life in NEI-VFQ significantly worse than controls. Furthermore, binocular visual acuity and contrast sensitivity were worse in SCA-PRKCG patients compared with controls. Despite this, none of the OCT measurements differed between groups. NEI-VFQ and NOS composite scores were related to ataxia severity. Additionally, we describe one patient with a genetic variant of uncertain significance in the catalytic domain of PKCγ who, unlike all confirmed SCA-PRKCG, presented with a clinically silent epitheliopathy. SCA-PRKCG patients had reduced binocular vision and vision-related quality of life. Since no structural retinal damage was found, the pathomechanism of these findings remains unclear. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12311-020-01130-w) contains supplementary material, which is available to authorized users. Springer US 2020-04-27 2020 /pmc/articles/PMC7351844/ /pubmed/32338350 http://dx.doi.org/10.1007/s12311-020-01130-w Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Original Article
Ihl, Thomas
Kadas, Ella M.
Oberwahrenbrock, Timm
Endres, Matthias
Klockgether, Thomas
Schroeter, Jan
Brandt, Alexander U.
Paul, Friedemann
Minnerop, Martina
Doss, Sarah
Schmitz-Hübsch, Tanja
Zimmermann, Hanna G.
Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
title Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
title_full Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
title_fullStr Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
title_full_unstemmed Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
title_short Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
title_sort investigation of visual system involvement in spinocerebellar ataxia type 14
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351844/
https://www.ncbi.nlm.nih.gov/pubmed/32338350
http://dx.doi.org/10.1007/s12311-020-01130-w
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