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. 2024 Aug;129(8):1215-1223.
doi: 10.1007/s11547-024-01839-2. Epub 2024 Jul 2.

Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2

Marina Grisoli #  1 , Anna Nigri #  2 , Jean Paul Medina Carrion  1 , Sara Palermo  1   3 , Greta Demichelis  1 , Chiara Giacosa  1 , Alessia Mongelli  4 , Mario Fichera  4 , Lorenzo Nanetti #  4 , Caterina Mariotti #  4
Affiliations

Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2

Marina Grisoli et al. Radiol Med. 2024 Aug.

Abstract

Purpose: Spinocerebellar ataxia SCA1 and SCA2 are adult-onset hereditary disorders, due to triplet CAG expansion in their respective causative genes. The pathophysiology of SCA1 and SCA2 suggests alterations of cerebello-thalamo-cortical pathway and its connections to the basal ganglia. In this framework, thalamic integrity is crucial for shaping efficient whole-brain dynamics and functions. The aims of the study are to identify structural changes in thalamic nuclei in presymptomatic and symptomatic SCA1 and SCA2 patients and to assess disease progression within a 1-year interval.

Material and methods: A prospective 1-year clinical and MRI assessment was conducted in 27 presymptomatic and 23 clinically manifest mutation carriers for SCA1 and SCA2 expansions. Cross-sectional and longitudinal changes of thalamic nuclei volume were investigated in SCA1 and SCA2 individuals and in healthy participants (n = 20).

Results: Both SCA1 and SCA2 patients had significant atrophy in the majority of thalamic nuclei, except for the posterior and partly medial nuclei. The 1-year longitudinal evaluation showed a specific pattern of atrophy in ventral and posterior thalamus, detectable even at the presymptomatic stage of the disease.

Conclusion: For the first time in vivo, our exploratory study has shown that different thalamic nuclei are involved at different stages of the degenerative process in both SCA1 and SCA2. It is therefore possible that thalamic alterations might significantly contribute to the progression of the disease years before overt clinical manifestations occur.

Keywords: MRI; Presymptomatic carriers; SCA1; SCA2; Spinocerebellar ataxias; Thalamus.

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Conflict of interest statement

The authors have no relevant financial or non-financial interests to disclose.

Figures

Fig. 1
Fig. 1
Longitudinal thalamic nuclei volume changes in preSCA1, SCA1, preSCA2, SCA2 subjects. Percentage of the median variation between baseline and 1-year follow-up visit within each group is reported only in the thalamic nuclei that presented significant alterations in the Wilcoxon signed rank test. The cartoon, adapted from [38], is a schematic representation of an axial view of the thalamic nuclei
See this image and copyright information in PMC

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