Cognitive phenotype in ataxia-telangiectasia

F Hoche, E Frankenberg, J Rambow, M Theis… - Pediatric …, 2014 - Elsevier
Background Pediatric cerebrocerebellar neurodegenerative disorders such as ataxia-
telangiectasia (AT) have not been examined in detail for neuropsychologic changes. Such
studies may contribute to the further understanding of ataxia-telangiectasia and to the role of
the cerebrocerebellar system in the development of cognitive function in childhood. Methods
Twenty-two patients with the classic phenotype of ataxia-telangiectasia were grouped into
early stage cerebellar disease (group AT-I) versus late stage cerebrocerebellar disease …