Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Abstract

We report a Jordanian Arab family where two sibsdeveloped the classical clinical and radiological fea-tures of pantothenate kinase associated neurode-generation (PKAN, formerly known as Hallervorden-Spatz disease) but in addition had an early onset cerebellar ataxia.1 2 Using polymorphic microsatellite markers we have shown that this family is not linked to the pantothenate kinase gene (PANK2) on chromosome 20.2 We hypothesise that the disorder, Karak syndrome, is novel and a member of the growing family of neurological diseases involving excess cerebral iron accumulation, for example, PKAN, neuroferritin-opathy, aceruloplasminaemia, and Friedreich’s ataxia.2–6 CLINICAL STUDIES Both affected members (fig 1, IV.1 and IV.2) were the product of a normal pregnancy and birth and had normal develop-mental milestones and progress at school until disease onset at the age of 6 years. They developed an ataxic gait that wa