Familial Spinocerebellar Degeneration, Hemolytic Anemia, and Glutathione Deficiency

Abstract

This report presents a new syndrome of hemolytic anemia, spinocerebellar degeneration, peripheral neuropathy, myopathy, and aminoaciduria associated with a deficiency in the reduced form of glutathione (GSH). Preliminary studies indicate that this may be the only reported family with GSH deficiency due to γglutamyl-cysteine synthetase deficiency. 1 Patients with autosomal recessive forms of spinocerebellar degeneration should be examined for disorders of GSH synthesis. Patient Summaries Patient 1. —A 35-year-old woman was examined initially in June 1963 (when she was age 27). She had a mild hemolytic anemia due to GSH deficiency. The only physical abnormalities at that time were absent reflexes in the lower extremities. In 1965, she developed psychotic behavior and a drop in hemoglobin values shortly after receiving a sulfa drug for a urinary tract infection. In July 1971, she had developed a mild ataxia with impairment of coordination and dysmetria in both her upper and lower extremities.