title: Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
abstract: We performed a detailed molecular study in two unrelated families with pantothenate kinase-associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye-of-the-tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with atypical PKAN, we identified a novel homozygous C-to-T transition at nucleotide 1069 of the PANK2 gene, which resulted in an arginine to tryptophane substitution at codon 357. As far as we are aware, this is the first case of classic PKAN with the specific MRI eye-of-the-tiger pattern not carrying a PANK2 mutation. Therefore, the present observation reinforces the notion of the phenotypic and genetic heterogeneity in PKAN.
authors.affiliation: Institute of Neurology, University Magna Graecia Catanzaro, Catanzaro, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Valentino
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Innocenza C
authors.initials: IC
authors.lastname: Cirò Candiano
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Donatella
authors.initials: D
authors.lastname: Civitelli
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.forename: Francesco
authors.initials: F
authors.lastname: Naso
authors.forename: Patrizia
authors.initials: P
authors.lastname: Spadafora
authors.forename: Sara
authors.initials: S
authors.lastname: Carrideo
authors.forename: Elvira V
authors.initials: EV
authors.lastname: De Marco
authors.forename: Domenico
authors.initials: D
authors.lastname: Consoli
authors.forename: Mario
authors.initials: M
authors.lastname: Zappia
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D001921:Brain / Q000473:pathology*; D002874:Chromosome Mapping; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009460:Neurologic Examination; D009711:Nucleotides / Q000235:genetics; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
chemical_list: D005819:Genetic Markers; D009711:Nucleotides; D014364:Tryptophan; D001120:Arginine; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase