NONPROGRESSIVE CONGENITAL ATAXIA WITH OR WITHOUT CEREBELLAR HYPOPLASIA - A REVIEW OF 34 SUBJECTS

Information on the long-term development of larger series of children with non-progressive congenital ataxia (NPCA) is scarce. We have updat ed a personal cohort of subjects previously diagnosed as having NPCA, Children with brain malformations, acquired neurological illness, or d efined syndromes were excluded, From 58 subjects, 34 were available fo r review (including three pairs of siblings). All our subjects had del ayed 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 imp airment was present in 22 of 34 subjects. MRI was normal in 15 of 27. There were no obvious correlations between degree of motor delay, seve rity of ataxia, cognitive impairment, and neuroimaging. Although genet ically and clinically not a homogeneous entity, NPCA is a helpful diag nostic label, Major problems arise in the majority of subjects related to cognitive impairment and less to neurological symptoms, Early indi vidual prognosis is not possible from early developmental milestones, neurological signs, or neuroimaging.