Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis

McLeod syndrome is a distinct form of neuroacanthocytosis. Its defining fea ture is the depression of erythrocyte Kell antigens. The underlying X chrom osomal mutations cause a dysfunction of an erythrocyte membrane protein Kx. A choreatic movement disorder with caudate atrophy in CT and MRI has been reported in McLeod syndrome later in the course of the disease. Positron em ission tomography with F-18-deoxyglucose (FDG) was performed in two unrelat ed affected men. In the older patient, progressive chorea was seen from the 5th decade. In the second patient there were no signs of a movement disord er at the age of 28. Positron emission tomography disclosed a reduction of the striatal FDG uptake in both patients, with accentuation in patient 1. F rontal lobe metabolism was not affected. Basal ganglia dysfunction with ear ly impairment of striatal glucose metabolism thus seems obligatory for McLe od syndrome, as found in other forms of chorea with or without acanthocytos is.