Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

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.

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

“…Brain MRI often shows atrophy with both ‘pure’ cerebellar or more severe combined cerebellar/brainstem patterns at different grades [ 36 ].…”

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

“…Magnetic resonance imaging (MRI) is a safe technique and constitutes a fundamental tool for both differential diagnosis of the causes of acute and subacute ataxia [25] and characterization of patients with progressive chronic ataxia with in vivo demonstration of three archetypal CNS atrophy patterns demonstrated by pathology [26][27][28][29]. The contribution of conventional MRI to the diagnosis in patients presenting with the most frequent acquired or inherited progressive ataxias has recently been re-assessed [30][31][32][33], and a variable combination of distributed atrophy pattern and signal changes in the brain and spinal cord has been recognized as valuable support for diagnosis and inserted in the diagnostic workflow and algorithms [24,30,32]. However, progressive ataxias often show non-specific and sometimes overlapping MRI findings which seldom allow per se a definite diagnosis.…”

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

“…Magnetic Resonance Imaging (MRI) is a safe technique and constitutes a fundamental tool for both differential diagnosis of the causes of acute and subacute ataxia [25] and characterization of patients with progressive chronic ataxia with in-vivo demonstration of three archetypal CNS atrophy patterns demonstrated by pathology [26][27][28][29]. The contribute of conventional MRI to the diagnosis in patients presenting with the most frequent acquired or inherited progressive ataxias has recently been re-assessed [30][31][32][33] and a variable combination of distributed atrophy pattern and signal changes in the brain and spinal cord has been recognized as a valuable support for diagnosis and inserted in the diagnostic workflow and algorithms [24,30,32]. However, progressive ataxias show often non-specific and sometimes overlapping MRI findings which seldom allow per se a definite diagnosis.…”