Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2.
MRI
Presymptomatic carriers
SCA1
SCA2
Spinocerebellar ataxias
Thalamus
Journal
La Radiologia medica
ISSN: 1826-6983
Titre abrégé: Radiol Med
Pays: Italy
ID NLM: 0177625
Informations de publication
Date de publication:
02 Jul 2024
02 Jul 2024
Historique:
received:
28
02
2024
accepted:
22
06
2024
medline:
2
7
2024
pubmed:
2
7
2024
entrez:
2
7
2024
Statut:
aheadofprint
Résumé
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. 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). 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. 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.
Identifiants
pubmed: 38954239
doi: 10.1007/s11547-024-01839-2
pii: 10.1007/s11547-024-01839-2
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministero della Salute
ID : RF-2011-02347420
Organisme : Ministero della Salute
ID : GR-2013-02357821
Organisme : Ministero della Salute
ID : RRC
Informations de copyright
© 2024. The Author(s).
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