Evidence map›Paper›PMID 40008742›Full record

ReviewArquivos brasileiros de oftalmologia2025

Retinal degeneration in spinocerebellar ataxia type 7: an overview of the current knowledge.

Bruna Ferraço Marianelli, Flávio Moura Rezende Filho, Mariana Vallim Salles, José Luiz Pedroso, Orlando Graziani P Barsottini, Juliana Maria Ferraz Sallum

Abstract readReview
In one paragraph

Review in Arquivos brasileiros de oftalmologia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Bruna Ferraço MarianelliDivision of Retina and Vitreous, Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.ORCID 0000-0002-0141-2678
Flávio Moura Rezende FilhoDivision of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.ORCID 0000-0003-4565-5898
Mariana Vallim SallesDivision of Retina and Vitreous, Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.ORCID 0000-0003-0388-6823
José Luiz PedrosoDivision of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.ORCID 0000-0002-1672-8894
Orlando Graziani P BarsottiniDivision of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.ORCID 0000-0002-0107-0831
Juliana Maria Ferraz SallumDivision of Retina and Vitreous, Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.ORCID 0000-0002-7206-4447

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia type 7 is a form of spinocerebellar ataxia, which is a clinically and genetically heterogeneous group of rare inherited neurodegenerative disorders. Among the spinocerebellar ataxias, the association between cerebellar ataxia and cone-rod retinal dystrophy is a strong indicator of spinocerebellar ataxia type 7. Spinocerebellar ataxia type 7 cone-rod dystrophy is a progressive, disabling, and incurable form of hereditary retinopathy. However, the field of genetics has markedly progressed in the last decades, which resulted in improved understanding of multiple aspects of spinocerebellar ataxia type 7 retinal degeneration and the emergence of new modalities of genetic therapies for other types of retinal dystrophies. This study aimed to evaluate the current knowledge on spinocerebellar ataxia type 7 retinal degeneration, including genetics and molecular mechanisms as well as their implications in pathogenesis, clinical manifestations, and potential therapeutic strategies.

Indexed as

Retinal DegenerationSpinocerebellar AtaxiasHumans

Identifiers

PMID40008742
PMCPMC12997638

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.