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Journal of Neurology

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10.05.2020 | Original Communication

Cerebellar degeneration in adult spinal muscular atrophy patients

verfasst von: Fabrício Castro de Borba, Giorgia Querin, Marcondes Cavalcante França Jr, Pierre-François Pradat

Erschienen in: Journal of Neurology | Ausgabe 9/2020

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Abstract

Background

Spinal muscular atrophy (SMA) is a genetic motor neuron disease related to deletions in the SMN1 gene. There is mounting evidence that the disease is not restricted to motor neurons. In this neuroimaging study, we aimed to investigate the presence of in-vivo cerebellar damage in adult SMA patients not treated with disease-modifying treatment.

Methods

Twenty-five molecularly confirmed patients with SMA type III or IV and 25 healthy controls underwent MRI with cerebellar focused structural analysis by the CERES automated pipeline. Volumetry (total and gray matter—GM) as well as cortical thickness of the cerebellar lobules were compared in both groups. Full clinical and demographic data were then assessed for correlations with cerebellar imaging findings.

Results

Volumes of cerebellar lobules VIIIB (right), IX and X were significantly smaller in patients with SMA. Lobule IX also had GM atrophy in comparison to controls. We found no significant correlation between clinical findings and cerebellar damage.

Conclusions

Neuroimaging detects cerebellar structural changes in adult SMA patients, suggesting that neurodegeneration is not confined to the lower motor neurons in the disease.

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Titel: Cerebellar degeneration in adult spinal muscular atrophy patients
verfasst von: Fabrício Castro de Borba
Giorgia Querin
Marcondes Cavalcante França Jr
Pierre-François Pradat
Publikationsdatum: 10.05.2020
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 9/2020
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09875-4

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Cerebellar degeneration in adult spinal muscular atrophy patients

Abstract

Background

Methods

Results

Conclusions

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Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Background

Methods

Results

Conclusions

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