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• W3083342881 abstract "This review proposes a clinical classification for congenital ataxias based on clinical features, neuroimaging, and course of the disease.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.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." @default.
• W3083342881 created "2020-09-11" @default.
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• W3083342881 date "2020-09-04" @default.
• W3083342881 modified "2023-09-30" @default.
• W3083342881 title "A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias" @default.
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• W3083342881 doi "https://doi.org/10.1212/cpj.0000000000000966" @default.
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