Hypothalamic atrophy in CANVAS/RFC1.

IF 4.8 2区医学 Q1 CLINICAL NEUROLOGY

Journal of Neurology Pub Date : 2025-06-17 DOI:10.1007/s00415-025-13194-x

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, Marcondes Cavalcante França

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引用次数: 0

Abstract

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.

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CANVAS/RFC1下丘脑萎缩。

背景：小脑性共济失调、神经病变和前庭反射综合征（CANVAS）是一种与RFC1基因相关的晚发性多系统疾病。尽管有自主神经障碍和睡眠障碍的证据，下丘脑的参与是未知的。目的：探讨CANVAS/RFC1下丘脑容量测定方法。方法：我们对19名CANVAS/RFC1患者和19名健康对照者进行了3次T-MRI扫描的自动下丘脑分割。使用ANCOVA进行体积比较，而与共济失调评估和评分量表（SARA）和帕金森病结局量表（SCOPA-AUT）评分的相关性采用Pearson相关法评估。结果：CANVAS/RFC1组下丘脑总容积显著低于对照组(RFC1: 734.84±160.49 mm3，对照组：878.83±136.55 mm3；p = 0.03；d = 0.99)和左侧上结节（LTS）体积减小(RFC1: 71.21±21.85 mm3 vs对照组：90.30±15.67 mm3；p = 0.02；d = 0.99)。LTS体积与SARA评分呈负相关（R = -0.51, P = 0.049），但与SCOPA-AUT评分无相关性。结论：本研究揭示了CANVAS下丘脑萎缩，提示其在疾病病理生理中的作用。进一步的研究应探讨更广泛的下丘脑功能障碍和临床意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neurology 医学-临床神经学

CiteScore

10.00

自引率

5.00%

发文量

558

审稿时长

1 months

期刊介绍： The Journal of Neurology is an international peer-reviewed journal which provides a source for publishing original communications and reviews on clinical neurology covering the whole field. In addition, Letters to the Editors serve as a forum for clinical cases and the exchange of ideas which highlight important new findings. A section on Neurological progress serves to summarise the major findings in certain fields of neurology. Commentaries on new developments in clinical neuroscience, which may be commissioned or submitted, are published as editorials. Every neurologist interested in the current diagnosis and treatment of neurological disorders needs access to the information contained in this valuable journal.