Epilepsy and Spinocerebellar Ataxia

Abstract

A large consanguinous family from Saudi Arabia with 4 affected children presenting with an autosomal recessive ataxia, generalized tonic-clonic epilepsy and mental retardation is reported from the Institut de Genetique, Universite Louis Pasteur, Illkirch, France; Division of Pediatric Neurology, King Saud University, Riyadh, Saudi Arabia; and other centers.

Keywords

• spinocerebellar ataxia
• cerebellar vermis atrophy
• myoclonic epilepsy with ragged red fibers