Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging?

Ataxia is a neurodegenerative disease resulting from brainstem, cerebellar, and/or spinocerebellar tracts impairments. Symptoms onset could vary widely from childhood to late-adulthood. Autosomal cerebellar ataxias are considered as one of the most complex group in neurogenetics. In addition to thei...

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Published in:Journal of neuroradiology 2018-09, Vol.45 (5), p.265-275
Main Authors: Heidelberg, D., Ronsin, S., Bonneville, F., Hannoun, S., Tilikete, C., Cotton, F.
Format: Article
Language:English
Subjects:
Atrophy
Bioengineering
Cerebellar Ataxia - diagnostic imaging
Cerebellar Ataxia - genetics
Dentate nuclei
Humans
Imaging
Inherited autosomal cerebellar ataxia
Life Sciences
Magnetic resonance imaging (MRI)
Magnetic Resonance Imaging - methods
Phenotype
Susceptibility-weighted imaging (SWI)
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cited_by cdi_FETCH-LOGICAL-c396t-e5df7d8709c67b4279ca5200bcb44991406440b732bd759b63ffe7e25518ff303
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container_issue 5
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container_title Journal of neuroradiology
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creator Heidelberg, D.
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description Ataxia is a neurodegenerative disease resulting from brainstem, cerebellar, and/or spinocerebellar tracts impairments. Symptoms onset could vary widely from childhood to late-adulthood. Autosomal cerebellar ataxias are considered as one of the most complex group in neurogenetics. In addition to their genetic heterogeneity, there is an important phenotypic variability in the expression of cerebellar impairment, complicating the genetic mutation research. A pattern recognition approach using brain MRI measures of atrophy, hyperintensities and iron-induced hypointensity of the dentate nuclei, could be therefore helpful in guiding genetic research. This review will discuss a pattern recognition approach that, associated with the age at disease onset, and clinical manifestations, may help neuroradiologists differentiate the most frequent profiles of ataxia.
doi_str_mv 10.1016/j.neurad.2018.05.005
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subjects Atrophy
Bioengineering
Cerebellar Ataxia - diagnostic imaging
Cerebellar Ataxia - genetics
Dentate nuclei
Humans
Imaging
Inherited autosomal cerebellar ataxia
Life Sciences
Magnetic resonance imaging (MRI)
Magnetic Resonance Imaging - methods
Phenotype
Susceptibility-weighted imaging (SWI)
title Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging?
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