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Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers

Rezende Filho, Flávio Moura ; Bremner, Fion ; Pedroso, José Luiz ; Andrade, João Brainer Clares ; Marianelli, Bruna Ferraço ; Lourenço, Charles Marques ; Marques‐Júnior, Wilson ; França, Marcondes C. ; Kok, Fernando ; Sallum, Juliana M.F. ; Parkinson, Michael H. ; Barsottini, Orlando G. ; Giunti, Paola

Movement disorders, 2021-09, Vol.36 (9), p.2027-2035 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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  • Título:
    Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
  • Autor: Rezende Filho, Flávio Moura ; Bremner, Fion ; Pedroso, José Luiz ; Andrade, João Brainer Clares ; Marianelli, Bruna Ferraço ; Lourenço, Charles Marques ; Marques‐Júnior, Wilson ; França, Marcondes C. ; Kok, Fernando ; Sallum, Juliana M.F. ; Parkinson, Michael H. ; Barsottini, Orlando G. ; Giunti, Paola
  • Assuntos: Acuity ; ARSACS ; Ataxia ; autosomal recessive spastic ataxia of Charlevoix‐Saguenay ; Biomarkers ; Cerebellar ataxia ; Cerebellum ; Clinical trials ; Hereditary spastic paraplegia ; Hyperplasia ; Hypoplasia ; Microcysts ; Optic nerve ; optical coherence tomography ; Paraplegia ; Pathogenesis ; Patients ; Phenotypes ; Retina ; Spastic paraplegia ; Swelling
  • É parte de: Movement disorders, 2021-09, Vol.36 (9), p.2027-2035
  • Notas: The authors have no conflicts of interest to report.
    Flávio Moura Rezende Filho, Fion Bremner, and José Luiz Pedroso contributed equally to this work.
    Funding agency
    This research did not receive funding.
    Relevant conflicts of interest/financial disclosures
    ObjectType-Article-1
    SourceType-Scholarly Journals-1
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  • Descrição: ABSTRACT Background Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. Objective To deeply phenotype the retina in ARSACS in order to better understand its pathogenesis and identify potential biomarkers. Methods We evaluated 29 patients with ARSACS, 66 with spinocerebellar ataxia (SCA), 38 with autosomal recessive cerebellar ataxia (ATX), 22 with hereditary spastic paraplegia (SPG), 21 cases of papilledema, and 20 healthy controls (total n = 196 subjects). Participants underwent visual acuity assessment, intraocular pressure measurement, fundoscopy, and macular and peripapillary optical coherence tomography (OCT). Macular layers thicknesses in ARSACS were compared with those of age‐matched healthy controls. Ophthalmologists analyzed the scans for abnormal signs in the different patient groups. Linear regression analysis was conducted to look for associations between retinal changes and age, age at onset, disease duration, and Scale for the Assessment and Rating of Ataxia (SARA) scores in ARSACS. Results Only patients with ARSACS exhibited peripapillary retinal striations (82%) on fundoscopy, and their OCT scans revealed foveal hypoplasia (100%), sawtooth appearance (89%), papillomacular fold (86%), and macular microcysts (18%). Average peripapillary retinal nerve fiber layer (pRNFL) was thicker in ARSACS than in SCA, ATX, SPG, and controls; a cut‐off of 121 μm was 100% accurate in diagnosing ARSACS. All macular layers were thicker in ARSACS when compared to healthy controls. RNFL thickness in the inferior sector of the macula positively correlated with SARA scores. Conclusions Retinal abnormalities are highly specific for ARSACS, and suggest retinal hyperplasia due to abnormal retinal development. OCT may provide potential biomarkers for future clinical trials. © 2021 International Parkinson and Movement Disorder Society
  • Editor: Hoboken, USA: John Wiley & Sons, Inc
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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