A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.
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.
Kazek
Beata
B
Department of Child Neurology, Medical University of Silesia, Katowice, Poland. beakazek@op.pl
Jamroz
Ewa
E
Gencik
Martin
M
Jezela Stanek
Aleksandra
A
Marszal
Elzbieta
E
Wojaczynska-Stanek
Katarzyna
K
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*
D001120:Arginine; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D005998:Glycine