PURPOSE OF REVIEW: This review proposes a clinical classification for congenital ataxias based on clinical features, neuroimaging, and course of the disease. RECENT FINDINGS: Congenital ataxias are an unusual group of neurologic disorders, with heterogeneous clinical and genetic presentation. Typical clinical features of congenital ataxias include variable degrees of motor developmental delay, very early onset cerebellar ataxia, cognitive impairment, and hypotonia, frequently mistakenly diagnosed as cerebral palsy. Congenital ataxias are usually nonprogressive. Neuroimaging plays an important role in the characterization of congenital ataxias. Despite the development of genetics with exome sequencing, several congenital ataxias remain undetermined, and medical literature on this topic is scarce. SUMMARY: A didactic classification based on the clinical and neuroimaging features for congenital ataxias include the following 4 main groups: cerebellar malformation, syndromic congenital ataxias, congenital cerebellar hypoplasia, and pontocerebellar hypoplasia. A diagnostic approach for congenital ataxias is proposed, and its differential diagnosis is also discussed.
PURPOSE OF REVIEW: This review proposes a clinical classification for congenital ataxias based on clinical features, neuroimaging, and course of the disease. RECENT FINDINGS: Congenital ataxias are an unusual group of neurologic disorders, with heterogeneous clinical and genetic presentation. Typical clinical features of congenital ataxias include variable degrees of motor developmental delay, very early onset cerebellar ataxia, cognitive impairment, and hypotonia, frequently mistakenly diagnosed as cerebral palsy. Congenital ataxias are usually nonprogressive. Neuroimaging plays an important role in the characterization of congenital ataxias. Despite the development of genetics with exome sequencing, several congenital ataxias remain undetermined, and medical literature on this topic is scarce. SUMMARY: A didactic classification based on the clinical and neuroimaging features for congenital ataxias include the following 4 main groups: cerebellar malformation, syndromic congenital ataxias, congenital cerebellar hypoplasia, and pontocerebellar hypoplasia. A diagnostic approach for congenital ataxias is proposed, and its differential diagnosis is also discussed.
Authors: P Feraco; M Mirabelli-Badenier; M Severino; M G Alpigiani; M Di Rocco; R Biancheri; A Rossi Journal: AJNR Am J Neuroradiol Date: 2012-06-21 Impact factor: 3.825
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Authors: Esther A R Nibbeling; Anna Duarri; Corien C Verschuuren-Bemelmans; Michiel R Fokkens; Juha M Karjalainen; Cleo J L M Smeets; Jelkje J de Boer-Bergsma; Gerben van der Vries; Dennis Dooijes; Giovana B Bampi; Cleo van Diemen; Ewout Brunt; Elly Ippel; Berry Kremer; Monique Vlak; Noam Adir; Cisca Wijmenga; Bart P C van de Warrenburg; Lude Franke; Richard J Sinke; Dineke S Verbeek Journal: Brain Date: 2017-11-01 Impact factor: 13.501