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Journal of Child Neurology
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A Novel PANK2 Gene Mutation: Clinical and Molecular Characteristics of Patients—Short Communication

Beata Kazek, MD, PhD

Department of Child Neurology, Medical University of Silesia, Katowice, Poland, beakazek{at}op.pl

Ewa Jamroz, MD, PhD

Department of Child Neurology, Medical University of Silesia, Katowice, Poland

Martin Gencik, MD, PhD

Praxis fur Humangenetik, Vienna, Austria

Aleksandra Jezela Stanek, MD, PhD

Department of Medical Genetics, Children Memorial Health Institute, Warszawa, Poland

Elzbieta Marszal, MD, PhD

Department of Child Neurology, Medical University of Silesia, Katowice, Poland

Katarzyna Wojaczynska-Stanek, MD, PhD

Department of Child Neurology, Medical University of Silesia, Katowice, Poland

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.

Key Words: Hallervorden-Spatz syndrome • pantothenate kinase—associated neurodegeneration • eye of the tiger sign • PKAN

Journal of Child Neurology, Vol. 22, No. 11, 1256-1259 (2007)
DOI: 10.1177/0883073807307092
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