Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

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. Onc...

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Vydané v:Neuroradiology Ročník 63; číslo 7; s. 983 - 999
Hlavní autori: Cocozza, Sirio, Pontillo, Giuseppe, De Michele, Giovanna, Di Stasi, Martina, Guerriero, Elvira, Perillo, Teresa, Pane, Chiara, De Rosa, Anna, Ugga, Lorenzo, Brunetti, Arturo
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Berlin/Heidelberg Springer Berlin Heidelberg 01.07.2021
Springer Nature B.V
Predmet:
Ataxia
Atrophy
Cerebellum
Diagnosis
Dysarthria
Evaluation
Genetic screening
Genotype & phenotype
Imaging
Magnetic resonance imaging
Medical imaging
Medicine
Medicine & Public Health
Neuroimaging
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Parenchyma
Patients
Phenotypes
Proteins
Radiology
Review
Spinal cord
Magnetic resonance imaging
Conventional MRI
Cerebellar ataxia
ISSN:0028-3940, 1432-1920, 1432-1920
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Shrnutí: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.
Bibliografia:ObjectType-Article-1
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ISSN:0028-3940
1432-1920
1432-1920
DOI:10.1007/s00234-021-02682-2