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

D Heidelberg, S Ronsin, F Bonneville, S Hannoun, C Tilikete, F Cotton

Journal: Journal of neuroradiology = Journal de neuroradiologie 2018;45(5):265-275

PMID: 29920348

Full Text on Elsevier Science View on PubMed

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.

Address: Faculty of Medicine, Claude-Bernard Lyon 1 University, 69000 Lyon, France; Service de radiologie and Laboratoire d'anatomie de Rockefeller, centre hospitalier Lyon Sud, hospices civils de Lyon, 69000 Lyon, France.; Neuro-ophtalmology unit and neurology D, Neurological and Neurosurgical Hospital P. Wertheimer, Hospices Civils de Lyon, 69000 Lyon, France.; Service de neuroradiologie diagnostique et thérapeutique, Hôpitaux de Toulouse, Hôpital Pierre-Paul-Riquet, 31000 Toulouse, France.; Nehme and Therese Tohme Multiple Sclerosis Center, American University of Beirut Medical Center, 1107, 2020 Beirut, Lebanon.; Faculty of Medicine, Claude-Bernard Lyon 1 University, 69000 Lyon, France; Neuro-ophtalmology unit and neurology D, Neurological and Neurosurgical Hospital P. Wertheimer, Hospices Civils de Lyon, 69000 Lyon, France; Lyon neuroscience research center, Inserm U1028, CNRS UMR5292, Impact Team, 69000 Lyon, France.; Faculty of Medicine, Claude-Bernard Lyon 1 University, 69000 Lyon, France; Service de radiologie and Laboratoire d'anatomie de Rockefeller, centre hospitalier Lyon Sud, hospices civils de Lyon, 69000 Lyon, France; CREATIS, Inserm U1044/CNRS UMR 5220, 69000 Lyon, France. Electronic address: [email protected].

DOI: 10.1016/j.neurad.2018.05.005

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MeSH Terms: Cerebellar Ataxia, Humans, Magnetic Resonance Imaging, Phenotype