Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.


Journal

Neuroradiology
ISSN: 1432-1920
Titre abrégé: Neuroradiology
Pays: Germany
ID NLM: 1302751

Informations de publication

Date de publication:
Jul 2021
Historique:
received: 18 01 2021
accepted: 25 02 2021
pubmed: 19 3 2021
medline: 30 9 2021
entrez: 18 3 2021
Statut: ppublish

Résumé

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. 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. 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. 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.

Identifiants

pubmed: 33733696
doi: 10.1007/s00234-021-02682-2
pii: 10.1007/s00234-021-02682-2
pmc: PMC8213578
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

983-999

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Auteurs

Sirio Cocozza (S)

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy. sirio.cocozza@unina.it.

Giuseppe Pontillo (G)

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.
Department of Electrical Engineering and Information Technology, University of Naples "Federico II", Naples, Italy.

Giovanna De Michele (G)

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples "Federico II", Naples, Italy.

Martina Di Stasi (M)

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.

Elvira Guerriero (E)

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.

Teresa Perillo (T)

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.

Chiara Pane (C)

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples "Federico II", Naples, Italy.

Anna De Rosa (A)

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples "Federico II", Naples, Italy.

Lorenzo Ugga (L)

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.

Arturo Brunetti (A)

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.

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