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A Proposal for Classification of Retinal Degeneration in Spinocerebellar Ataxia Type 7

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Abstract

The aim of this study is to propose a classification system for the spinocerebellar ataxia type 7 retinal degeneration (SCA7-RD). Twenty patients with molecularly confirmed SCA7 underwent slit lamp examination, fundus photography, and optical coherence tomography (Spectralis®). Scale for the Assessment and Rating of Ataxia (SARA) and International Cooperative Ataxia Rating Scale (ICARS) were applied, and age, sex, age at symptom onset, and number of CAG expansions were recorded. After analyzing the ophthalmological findings in each participant, a panel of retinal disease experts created a qualitative classification system for SCA7-RD comprising four stages. We assessed the correlations of retinal degeneration severity with SARA and ICARS scores, number of CAG repeats in ATXN7 allele, and age at symptom onset. We graded retinal degeneration as stage 1 in nine participants, as stage 2 in five, and as stage 3 in six. No differences in age and visual symptoms duration were found between groups. SARA and ICARS scores correlated with the severity of SCA7-RD on the classification system (p = 0.024 and p = 0.014, respectively). After adjusting for disease duration, retinal disease stage association with SARA and ICARS scores remained significant (ANCOVA, p < 0.05). The classification system for SCA7-RD was able to characterize different disease stages representing the landmarks in the cone–rod dystrophy natural history. Neurodegeneration appears to occur in parallel in the cerebellum and in the visual pathway. We conclude that retinal degeneration in SCA7 is a potential biomarker of the neurological phenotype severity.

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Author notes

  1. Bruna Ferraço Marianelli and Flávio Moura Rezende Filho contributed equally to this work.

Authors and Affiliations

  1. Division of Retina and Vitreous, Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    Bruna Ferraço Marianelli, Mariana Vallim Salles & Juliana Maria Ferraz Sallum

  2. Vitória, Brazil

    Bruna Ferraço Marianelli

  3. Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    Flávio Moura Rezende Filho, João Brainer Clares de Andrade, José Luiz Pedroso & Orlando Graziani P. Barsottini

Authors
  1. Bruna Ferraço Marianelli
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  2. Flávio Moura Rezende Filho
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  3. Mariana Vallim Salles
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  5. José Luiz Pedroso
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  6. Juliana Maria Ferraz Sallum
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  7. Orlando Graziani P. Barsottini
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Bruna Ferraço Marianelli, Flávio Moura Rezende Filho, Mariana Vallim Salles, João Brainer Clares de Andrade, José Luiz Pedroso, Juliana Maria Ferraz Sallum, and Orlando G. Barsottini. The first draft of the manuscript was written by Bruna Ferraço Marianelli and Flávio Moura Rezende Filho, and all authors commented on previous versions of the manuscript and added important contributions on the review process. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Bruna Ferraço Marianelli.

Ethics declarations

Ethics Approval and Consent to Participate

The authors declare that this study was approved by the Research Ethics Committee, and all participants provided informed consent. Project number and institution responsible for the approval of the Research Ethics Committee: Ethic Committee of Federal University of São Paulo (number of Register: 54042316.7.0000.5505).

Consent for Publication

The authors declare that the informed consent of all participants was obtained. All individuals included in this study allowed publication of clinical data, including examination images, with the guarantee that their identity would be protected.

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We declare no conflicts of interest and no financial support for this work.

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Marianelli, B.F., Filho, F.M.R., Salles, M.V. et al. A Proposal for Classification of Retinal Degeneration in Spinocerebellar Ataxia Type 7. Cerebellum 20, 384–391 (2021). https://doi.org/10.1007/s12311-020-01215-6

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