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Published in: Neuroradiology 7/2021

Open Access 01-07-2021 | Cranial MRI | Review

Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

Authors: Sirio Cocozza, Giuseppe Pontillo, Giovanna De Michele, Martina Di Stasi, Elvira Guerriero, Teresa Perillo, Chiara Pane, Anna De Rosa, Lorenzo Ugga, Arturo Brunetti

Published in: Neuroradiology | Issue 7/2021

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Abstract

Purpose

Cerebellar ataxias are a large and heterogeneous group of disorders. The evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of these conditions, being mandatory to exclude the presence of other underlying causes in determining the clinical phenotype. Once these possible causes are ruled out, the diagnosis is usually researched in the wide range of hereditary or sporadic ataxias.

Methods

We here propose a review of the main clinical and conventional imaging findings of the most common hereditary degenerative ataxias, to help neuroradiologists in the evaluation of these patients.

Results

Hereditary degenerative ataxias are all usually characterized from a neuroimaging standpoint by the presence, in almost all cases, of cerebellar atrophy. Nevertheless, a proper assessment of imaging data, extending beyond the mere evaluation of cerebellar atrophy, evaluating also the pattern of volume loss as well as concomitant MRI signs, is crucial to achieve a proper diagnosis.

Conclusion

The integration of typical neuroradiological characteristics, along with patient’s clinical history and laboratory data, could allow the neuroradiologist to identify some conditions and exclude others, addressing the neurologist to the more appropriate genetic testing.
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Metadata
Title
Conventional MRI findings in hereditary degenerative ataxias: a pictorial review
Authors
Sirio Cocozza
Giuseppe Pontillo
Giovanna De Michele
Martina Di Stasi
Elvira Guerriero
Teresa Perillo
Chiara Pane
Anna De Rosa
Lorenzo Ugga
Arturo Brunetti
Publication date
01-07-2021
Publisher
Springer Berlin Heidelberg
Published in
Neuroradiology / Issue 7/2021
Print ISSN: 0028-3940
Electronic ISSN: 1432-1920
DOI
https://doi.org/10.1007/s00234-021-02682-2

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