Evidence map›Paper›PMID 40526300›Full record

ArticleJournal of neurology2025

Hypothalamic atrophy in CANVAS/RFC1.

Verena Miranda Souza, Camila Caroso Lobo, Thiago Junqueira Ribeiro Rezende, Gabriel Silva Schmitt, Paula Camila Alves de Assis Pereira Matos, Fabrício Diniz de Lima, Alberto Rolim Muro Martinez, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Wilson Marques and 1 more

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Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Verena Miranda Souza *Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, Universitária "Zeferino Vaz", 126. Cidade, Campinas, SP, Brazil.
Camila Caroso Lobo *Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, Universitária "Zeferino Vaz", 126. Cidade, Campinas, SP, Brazil.
Thiago Junqueira Ribeiro RezendeDepartment of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, Universitária "Zeferino Vaz", 126. Cidade, Campinas, SP, Brazil.
Gabriel Silva SchmittDepartment of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, Universitária "Zeferino Vaz", 126. Cidade, Campinas, SP, Brazil.
Paula Camila Alves de Assis Pereira MatosDepartment of Neurology, General Neurology and Ataxia Unit, Federal University of Sao Paulo (UNIFESP), São Paulo, SP, Brazil.
Fabrício Diniz de LimaDepartment of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, Universitária "Zeferino Vaz", 126. Cidade, Campinas, SP, Brazil.
Alberto Rolim Muro MartinezDepartment of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, Universitária "Zeferino Vaz", 126. Cidade, Campinas, SP, Brazil.
Orlando Graziani Povoas BarsottiniDepartment of Neurology, General Neurology and Ataxia Unit, Federal University of Sao Paulo (UNIFESP), São Paulo, SP, Brazil.
José Luiz PedrosoDepartment of Neurology, General Neurology and Ataxia Unit, Federal University of Sao Paulo (UNIFESP), São Paulo, SP, Brazil.
Wilson MarquesDepartment of Neurosciences, School of Medicine, University of São Paulo at Ribeirão Preto (USP-RP), Ribeirão Preto, SP, Brazil.
Marcondes Cavalcante FrançaDepartment of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, Universitária "Zeferino Vaz", 126. Cidade, Campinas, SP, Brazil. mcfjr@unicamp.br.ORCID http://orcid.org/0000-0003-0898-2419

Funding

Fundação de Amparo à Pesquisa do Estado de São Paulo grant number #2013/07559-3
6 · The paper itself

Abstract

backgroundCerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late-onset multisystem disorder related to the RFC1 gene. Despite evidence of dysautonomia and sleep disturbances, hypothalamic involvement is unknown.

objectiveWe aimed to investigate hypothalamic volumetry in CANVAS/RFC1.

methodsWe analyzed 19 CANVAS/RFC1 patients and 19 healthy controls using automated hypothalamic segmentation from 3 T-MRI scans. Volumetric comparisons were performed using ANCOVA, while correlations with Scale for the Assessment and Rating of Ataxia (SARA) and Scales for Outcomes in Parkinson's Disease-Autonomic questionnaire (SCOPA-AUT) scores were assessed by Pearson's correlation.

resultsCANVAS/RFC1 group had a significantly lower total hypothalamic volume (RFC1: 734.84 ± 160.49 mm

conclusionThis study reveals hypothalamic atrophy in CANVAS, suggesting its role in disease pathophysiology. Further research should investigate broader hypothalamic dysfunctions and clinical implications.

Indexed as

Cerebellar AtaxiaHypothalamusAdultAgedAtrophyFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedAtaxiaDysautonomiaHypothalamusMRIRFC1 expansion

Identifiers

PMID40526300

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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.