Conventional MRI Findings in Hereditary Degenerative Ataxias: a Pictorial Review

Overview

Journal Neuroradiology

Specialties Neurology
Radiology

Date 2021 Mar 18

PMID 33733696

Citations 18

Authors

Sirio Cocozza

Giuseppe Pontillo

Giovanna De Michele

Martina Di Stasi

Elvira Guerriero

Teresa Perillo

Chiara Pane

Anna De Rosa

Lorenzo Ugga

Arturo Brunetti

Affiliations

Soon will be listed here.

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.

Citing Articles

Altered Intracerebellar Functional Connectivity in Friedreich's Ataxia: A Graph-Theory Functional MRI Study.

Tranfa M, Costabile T, Pontillo G, Scaravilli A, Pane C, Brunetti A Cerebellum. 2025; 24(2):30.

PMID: 39808241 PMC: 11732920. DOI: 10.1007/s12311-025-01785-3.

Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia.

Gigliucci V, Huang S, Boschetti G, Scaravilli A, Castoldi V, Podini P Ann Neurol. 2024; 97(3):425-434.

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Clinical, imaging and histopathological characterization of a series of three cats with cerebellar cortical degeneration.

Giron C, Helie P, Parent J, Boutin M, St-Jean G BMC Vet Res. 2024; 20(1):263.

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An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.

Scaravilli A, Gabusi I, Mari G, Battocchio M, Bosticardo S, Schiavi S J Neurol. 2024; 271(8):5468-5477.

PMID: 38880819 PMC: 11319608. DOI: 10.1007/s00415-024-12505-y.

MRl and MRS hints for the differentiation of cerebellar multiple system atrophy from spinocerebellar ataxia type II.

Chen H, Lee L, Lirng J, Soong B Heliyon. 2024; 10(7):e29265.

PMID: 38601670 PMC: 11004415. DOI: 10.1016/j.heliyon.2024.e29265.

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