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Background <p>Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late-onset multisystem disorder related to the <i>RFC1</i> gene. Despite evidence of dysautonomia and sleep disturbances, hypothalamic involvement is unknown.</p> Objective <p>We aimed to investigate hypothalamic volumetry in CANVAS/RFC1.</p> Methods <p>We analyzed 19 CANVAS/RFC1 patients and 19 healthy controls using automated hypothalamic segmentation from 3&#xa0;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.</p> Results <p>CANVAS/RFC1 group had a significantly lower total hypothalamic volume (RFC1: 734.84 ± 160.49 mm<sup>3</sup> vs Controls: 878.83 ± 136.55 mm<sup>3</sup>; <i>P</i> = 0.03; d = 0.99) and a reduced left tuberal superior (LTS) volume (RFC1: 71.21 ± 21.85 mm<sup>3</sup> vs Controls: 90.30 ± 15.67 mm<sup>3</sup>; P = 0.02; d = 0.99). LTS volume inversely correlated with SARA score (R = -0.51, P = 0.049), but no associations were found with SCOPA-AUT.</p> Conclusion <p>This study reveals hypothalamic atrophy in CANVAS, suggesting its role in disease pathophysiology. Further research should investigate broader hypothalamic dysfunctions and clinical implications.</p>

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Hypothalamic atrophy in CANVAS/RFC1

  • 期刊论文

  • 发表日期：

    2025年6月17日

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  • 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 Jr,
  • Marcondes Cavalcante França Jr

摘要

Background

Cerebellar 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.

Objective

We aimed to investigate hypothalamic volumetry in CANVAS/RFC1.

Methods

We 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.

Results

CANVAS/RFC1 group had a significantly lower total hypothalamic volume (RFC1: 734.84 ± 160.49 mm3 vs Controls: 878.83 ± 136.55 mm3; P = 0.03; d = 0.99) and a reduced left tuberal superior (LTS) volume (RFC1: 71.21 ± 21.85 mm3 vs Controls: 90.30 ± 15.67 mm3; P = 0.02; d = 0.99). LTS volume inversely correlated with SARA score (R = -0.51, P = 0.049), but no associations were found with SCOPA-AUT.

Conclusion

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