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

• Published in: SAGE open medical case reports Vol. 5; p. 2050313X17720101
• Main Authors: Paraskevas, George P, Yapijakis, Christos, Bougea, Anastasia, Constantinides, Vasilios, Bourbouli, Mara, Stamboulis, Eleftherios, Kapaki, Elisabeth
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01-01-2017; Sage Publications Ltd; SAGE Publishing
• Subjects: Brain diseases; Case Report; Case reports; Mutation; Neurodegeneration; neurodegeneration with brain iron accumulation; atypical parkinsonism; focal dystonia; Pantothenate-kinase-associated neurodegeneration
• ISSN: 2050-313X; 2050-313X
• DOI: 10.1177/2050313X17720101

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.