Evidence map›Paper›PMID 38954239›Full record

ArticleLa Radiologia medica2024

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

Marina Grisoli, Anna Nigri, Jean Paul Medina Carrion, Sara Palermo, Greta Demichelis, Chiara Giacosa, Alessia Mongelli, Mario Fichera, Lorenzo Nanetti, Caterina Mariotti

Abstract read
In one paragraph

Article in La Radiologia medica, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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3citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Marina Grisoli *Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.
Anna Nigri *Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy. anna.nigri@istituto-besta.it.ORCID http://orcid.org/0000-0002-1197-5458
Jean Paul Medina CarrionNeuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.
Sara PalermoNeuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.
Greta DemichelisNeuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.
Chiara GiacosaNeuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.
Alessia MongelliUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mario FicheraUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Lorenzo Nanetti *Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Caterina Mariotti *Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Funding

Ministero della Salute GR-2013-02357821Ministero della Salute RF-2011-02347420Ministero della Salute RRC
6 · The paper itself

Abstract

purposeSpinocerebellar 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

methodsA 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).

resultsBoth 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.

conclusionFor 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.

Indexed as

Disease ProgressionMagnetic Resonance ImagingSpinocerebellar AtaxiasThalamusAdultAtaxin-1Ataxin-2AtrophyCross-Sectional StudiesFemaleHumansLongitudinal StudiesMaleMiddle AgedOrgan SizeProspective StudiesAtaxin-1Ataxin-2ATXN1 protein, humanATXN2 protein, humanMRIPresymptomatic carriersSCA1SCA2Spinocerebellar ataxiasThalamus

Identifiers

PMID38954239
PMCPMC11322486

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