Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging?
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Elsevier Masson SAS
Abstract
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. © 2018 Elsevier Masson SAS
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Atrophy, Dentate nuclei, Inherited autosomal cerebellar ataxia, Magnetic resonance imaging (mri), Susceptibility-weighted imaging (swi), Cerebellar ataxia, Humans, Magnetic resonance imaging, Phenotype, Ataxin, Ataxin 3, Ataxin 6, Fragile x mental retardation protein, Unclassified drug, Anatomical variation, Aptx gene, Ataxia telangiectasia, Ataxia with oculomotor apraxia type 1, Ataxia with vitamin e deficiency, Autosomal recessive disorder, Cacna1a gene, Clinical feature, Dentate nucleus, Fmr1 gene, Fragile x associated tremor ataxia syndrome, Friedreich ataxia, Gene, Gene mutation, Genetic heterogeneity, Genetic variability, Human, Neuroimaging, Nuclear magnetic resonance imaging, Oculomotor apraxia type 2, Onset age, Pathogenesis, Pattern recognition, Review, Setx gene, Spastic ataxia of charlevoix saguenay, Spinocerebellar ataxia type 3, Spinocerebellar ataxia type 6, Diagnostic imaging, Genetics, Procedures