Erythrocyte Protoporphyrin Levels in Patients with Friedreich's and other Ataxias

Abstract

SummaryOf 13 patients with Fried-reich's ataxia (Type la) and 17 with type Ila recessive ataxias, all were found to have levels of “free erythrocyte protoporphyrin “ (FEP) above the normal range. The rise in FEP in Friedreich's ataxia correlated well with the age of the individual and thus appears to be related to the course of the disease. Subjects with olivo-ponto-cerebel-lar atrophy, Charlevoix syndrome, Duchenne muscular dystrophy, and Parkinson's disease were also found to have significantly elevated FEP, although the distribution overlapped with the normal range.The finding of elevated FEP may indicate a relative heme deficiency in ataxia due to inhibition offerrochelatase leading to a state of ineffective, persistent erythropoiesis. The possibility of a prosta-glandin abnormality being related to this defect and to the pathogenesis of ataxia is considered.