Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood

J Neuroradiol. 2016 Jun;43(3):176-85. doi: 10.1016/j.neurad.2016.03.006. Epub 2016 Apr 25.

Abstract

Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, characterized by cerebellar ataxia as the main clinical feature, and a large spectrum of neurological-associated symptoms and possible multi-organ affection. Image-based approaches to hereditary ataxias in childhood have already been proposed. The aim of this review is to yield the main reports of neuroimaging patterns and diagnostic algorithms and compare them with the results from our study of 23 young patients addressed for ataxia, with subsequent genetic or metabolic diagnosis.

Keywords: Atrophy; Dysplasia; Hereditary ataxias; Hypoplasia; MRI.

Publication types

  • Review

MeSH terms

  • Brain / diagnostic imaging*
  • Brain / pathology
  • Cerebellar Ataxia / diagnostic imaging*
  • Cerebellar Ataxia / genetics
  • Cerebellar Ataxia / pathology
  • Child
  • Diagnosis, Computer-Assisted / methods
  • Humans
  • Neuroimaging / methods*
  • Spinocerebellar Degenerations / diagnostic imaging*
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / pathology