Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration

Abstract

Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-kinase-associated neurodegeneration, confirmed by molecular analysis that revealed two trans-acting mutations. Our findings highlight the possible role of rare variants contributing to disease risk and possibly to variable clinical phenotype.

Keywords: Pantothenate-kinase-associated neurodegeneration; atypical parkinsonism; focal dystonia; neurodegeneration with brain iron accumulation.

Figure 1.

(a, b) Magnetic resonance imaging showing bilateral peripheral hypointensity in the globi pallidi with a central focus of gliosis, called as “eye-of-the-tiger” sign; (c) restriction fragment patterns of PCR products illustrating the alleles observed in loci c.1424 and c.1583. P: patient; Mo: patient’s mother; HC: healthy control; M: molecular weight marker.