AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATROPHY - A CLINICAL AND NEUROPSYCHOLOGICAL STUDY

Congenital cerebellar atrophy associated with a non-progressive cerebe llar syndrome and mild cognitive retardation is described in seven cas es, four of them familial. Their occurrence is consistent with an auto somal recessive inheritance. Clinical and neuroimaging data seem to ex clude supratentorial changes. Even though it is not possible to defini tely rule out a possible role of the forebrain in determining the ment al defect, the neuropsychological study supplies arguments stressing t he relationship between cerebellar defect and cognitive development.