Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegeneration.

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings. We report a case of atypical PKAN presenting with generalized dystonia. Our patient had compound heterozygous mutations in the PANK2 gene, including mutation in exon 3 (p.D268G) and exon 4 (p.R330P). To our knowledge, this patient is the first to have the p.R330P mutation and the second to have the p.D268G mutation.