BILATERAL STRIATAL NECROSIS WITH A NOVEL POINT MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE

A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism anal ysis and direct DNA sequencing, a novel point mutation (T to C) at nuc leotide 8851 of the mitochondrial DNA (mtDNA) was identified, This mut ation changes a highly conserved tryptophan to arginine in subunit 6 o f the mtATPase gene, The mutation was nearly homoplasmic and maternall y inherited, This is the first published report of a mutation in the m tDNA in bilateral striatal degeneration, It is possible that other cas es of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.