title: Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood.
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.
authors.affiliation: Department of Radiology, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy. Electronic address: gperucca@cittadellasalute.to.it.
authors.forename: Giulia
authors.initials: G
authors.lastname: Perucca
authors.affiliation: University Hospital of Montpellier, Department of Neuroradiology, Montpellier, France. Electronic address: n-leboucq@chu-montpellier.fr.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Leboucq
authors.affiliation: University Hospital of Montpellier, Department of Pediatric Neurology, Montpellier, France. Electronic address: a-roubertie@chu-montpellier.fr.
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.affiliation: University Hospital of Montpellier, Department of Pediatric Neurology, Montpellier, France. Electronic address: f-rivier@chu-montpellier.fr.
authors.forename: François
authors.initials: F
authors.lastname: Rivier
authors.affiliation: University Hospital of Montpellier, Department of Neuroradiology, Montpellier, France. Electronic address: n-menjot_de_champfleur@chu-montpellier.fr.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Menjot
authors.affiliation: Department of Neuroradiology, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy. Electronic address: mariaconsuelo.valentini@unito.it.
authors.forename: Consuelo
authors.initials: C
authors.lastname: Valentini
authors.affiliation: University Hospital of Montpellier, Department of Neuroradiology, Montpellier, France. Electronic address: a-bonafe@chu-montpellier.fr.
authors.forename: Alain
authors.initials: A
authors.lastname: Bonafe
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D002648:Child; D003936:Diagnosis, Computer-Assisted / Q000379:methods; D006801:Humans; D059906:Neuroimaging / Q000379:methods*; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology
keywords: Atrophy; Dysplasia; Hereditary ataxias; Hypoplasia; MRI