dc.contributor.author
Oertel, Frederike Cosima
dc.contributor.author
Zeitz, Oliver
dc.contributor.author
Rönnefarth, Maria
dc.contributor.author
Bereuter, Charlotte
dc.contributor.author
Motamedi, Seyedamirhosein
dc.contributor.author
Zimmermann, Hanna G.
dc.contributor.author
Kuchling, Joseph
dc.contributor.author
Grosch, Anne Sophie
dc.contributor.author
Doss, Sarah
dc.contributor.author
Browne, Andrew
dc.contributor.author
Paul, Friedemann
dc.contributor.author
Schmitz‐Hübsch, Tanja
dc.contributor.author
Brandt, Alexander U.
dc.date.accessioned
2022-03-04T11:22:01Z
dc.date.available
2022-03-04T11:22:01Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/34323
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-34040
dc.description.abstract
Background:
Spinocerebellar ataxia type 1 (SCA-ATXN1) is an inherited progressive ataxia disorder characterized by an adult-onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described.
Objectives:
To describe a retinal phenotype and its functional relevance in SCA-ATXN1.
Methods:
We applied optical coherence tomography (OCT) in 20 index cases with SCA-ATXN1 and 22 healthy controls (HCs), investigating qualitative changes and quantifying the peripapillary retinal nerve fiber layer (pRNFL) thickness and combined ganglion cell and inner plexiform layer (GCIP) volume as markers of optic atrophy and outer retinal layers as markers of maculopathy. Visual function was assessed by high- (HC-VA) and low-contrast visual acuity (LC-VA) and the Hardy-Rand-Rittler pseudoisochromatic test for color vision.
Results:
Five patients (25%) showed distinct maculopathies in the ellipsoid zone (EZ). Furthermore, pRNFL (P < 0.001) and GCIP (P = 0.002) were reduced in patients (pRNFL, 80.86 ± 9.49 μm; GCIP, 1.84 ± 0.16 mm3) compared with HCs (pRNFL, 97.02 ± 8.34 μm; GCIP, 1.98 ± 0.12 mm3). Outer macular layers were similar between groups, but reduced in patients with maculopathies. HC-VA (P = 0.002) and LC-VA (P < 0.001) were reduced in patients (HC-VA [logMAR]: 0.01 ± 010; LC-VA [logMAR]: 0.44 ± 0.16) compared with HCs (HC-VA [logMAR]: –0.12 ± 0.08; LC-VA [logMAR]: 0.25 ± 0.05). Color vision was abnormal in 2 patients with maculopathies.
Conclusions:
A distinct maculopathy, termed EZ disruption, as well as optic atrophy add to the known nonataxia features in SCA-ATXN1. Whereas optic atrophy may be understood as part of a widespread neurodegeneration, EZ disruption may be explained by effects of ataxin-1 gene or protein on photoreceptors. Our findings extend the spectrum of nonataxia signs in SCA-ATXN1 with potential relevance for diagnosis and monitoring.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
optical coherence tomography
en
dc.subject
optic atrophy
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.doi
10.1002/mdc3.12949
dcterms.bibliographicCitation.journaltitle
Movement Disorders Clinical Practice
dcterms.bibliographicCitation.number
5
dcterms.bibliographicCitation.originalpublishername
Wiley
dcterms.bibliographicCitation.pagestart
502
dcterms.bibliographicCitation.pageend
508
dcterms.bibliographicCitation.volume
7
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.funding
DEAL Wiley
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
32626794
dcterms.isPartOf.eissn
2330-1619