Autosomal recessive cerebellar ataxia with slow eye movements: Review of 8 families
摘要
Slow eye movements, defined as limitation of ocular movements on command, dissociated of movements of pursuit, are clinical features of two well-known genetic neurological diseases, ataxia-telangiectasia and SCA2. Ataxia-telangiectasia is a recessive cerebellar ataxia beginning in childhood, with ocular apraxia, conjunctival and cutaneous telangiectasias, and evidence of humoral and cellular immunodeficiency. It was linked to chromosome 11 and associated with DNA repair defects. SCA2 is an adult onset autosomal dominant spinocerebellar ataxia linked to chromosome 12. In 1988, Aicardi and Barbosa reviewed 14 patients with a neurological picture similar to ataxia-telangiectasia, with the same recessive transmission but without telangiectasias or immunodeficiency. This new form of recessive ataxia was considered rare. In a survey of inherited ataxias we are carrying out in Portugal it appears to be more frequent and we decided to analyze its clinical picture and advance several diagnostic criteria.