Objective: We aimed to investigate hypothalamic volumetry in CANVAS/RFC1.

Background: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is now recognized as a late-onset multisystem neurodegenerative disorder. While dysautonomia and sleep disturbances suggest hypothalamic involvement, no studies have assessed hypothalamic structural changes in CANVAS.

Method: We analyzed 38 individuals (19 CANVAS patients, 19 age- and sex-matched healthy controls) using automated hypothalamic segmentation tool (H-SynEx) from 3T MRI scans. Volumetric comparisons were performed using ANCOVA with correction for multiple comparisons. Pearson’s correlation was applied to assess correlation between hypothalamic volumes and clinical parameters (SARA and SCOPA-AUT scores).

Results: Patients with CANVAS/RFC1 have 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) compared to the control group. An inverse correlation was observed between LTS volume and SARA score in CANVAS/RFC1 patients (R=-0.51; P=0.049). No significant associations were found between hypothalamic volume and SCOPA-AUT scores or disease duration.

Conclusion: This is the first study to demonstrate hypothalamic atrophy in CANVAS, highlighting its potential role in disease pathophysiology. Future studies should explore broader hypothalamic dysfunctions and their clinical implications.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/hypothalamic-atrophy-in-canvas-rfc1/