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• W2045550921 abstract "Information on the long-term development of larger series of children with non-progressive congenital ataxia (NPCA) is scarce. We have updated a personal cohort of subjects previously diagnosed as having NPCA. Children with brain malformations, acquired neurological illness, or defined syndromes were excluded. From 58 subjects, 34 were available for review (including three pairs of siblings). All our subjects had delayed motor and speech development. Truncal ataxia persisted but became less significant. Two subjects developed spasticity and three a focal dystonia. Epilepsy was a feature in 10 of the subjects. Cognitive impairment was present in 22 of 34 subjects. MRI was normal in 15 of 27. There were no obvious correlations between degree of motor delay, severity of ataxia, cognitive impairment, and neuroimaging. Although genetically and clinically not a homogeneous entity, NPCA is a helpful diagnostic label. Major problems arise in the majority of subjects related to cognitive impairment and less to neurological symptoms. Early individual prognosis is not possible from early developmental milestones', neurological signs, or neuroimaging." @default.
• W2045550921 created "2016-06-24" @default.
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• W2045550921 date "2008-11-12" @default.
• W2045550921 modified "2023-10-17" @default.
• W2045550921 title "Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects" @default.
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• W2045550921 doi "https://doi.org/10.1111/j.1469-8749.1998.tb15438.x" @default.
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