title: A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. The authors present 3 patients with proven molecular diagnosis of PKAN, in whom 2 novel mutations of PANK2 gene have been identified.
authors.affiliation: Department of Child Neurology, Medical University of Silesia, Katowice, Poland. beakazek@op.pl
authors.forename: Beata
authors.initials: B
authors.lastname: Kazek
authors.forename: Ewa
authors.initials: E
authors.lastname: Jamroz
authors.forename: Martin
authors.initials: M
authors.lastname: Gencik
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela Stanek
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Marszal
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wojaczynska-Stanek
mesh_terms: D000293:Adolescent; D001120:Arginine / Q000235:genetics; D002648:Child; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D001120:Arginine; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D005998:Glycine