title: Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration.
abstract: Interactions of transcriptions factors Nurr1, Pitx3, and EN1 are involved in the maturation and survival of adult midbrain dopaminergic neurons during a lifetime. The aim of the study was to evaluate the presence of mutations and single nucleotide polymorphisms in PITX3 gene in clinically diagnosed multisystem atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). In the group of 77 patients with MSA, 44 with PSP, and 6 with CBD, no pathogenic mutations were identified.
authors.affiliation: Department of Neurology, Medical University of Warsaw, Warsaw, Poland. zygmunt.jamrozik@wum.edu.pl
authors.forename: Zygmunt
authors.initials: Z
authors.lastname: Jamrozik
authors.forename: Mariusz
authors.initials: M
authors.lastname: Berdynski
authors.forename: Cezary
authors.initials: C
authors.lastname: Zekanowski
authors.forename: Anna
authors.initials: A
authors.lastname: Baranczyk-Kuzma
authors.forename: Jarosław
authors.initials: J
authors.lastname: Sławek
authors.forename: Magdalena
authors.initials: M
authors.lastname: Kuzma-Kozakiewicz
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Maruszak
authors.forename: Hubert
authors.initials: H
authors.lastname: Kwiecinski
mesh_terms: D000368:Aged; D001479:Basal Ganglia / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D017931:DNA Primers / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000473:pathology; D011044:Poland; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018398:Homeodomain Proteins; D014157:Transcription Factors; C433629:homeobox protein PITX3
keywords: Corticobasal Degeneration; Multisystem atrophy; PITX3 gene; Progressive Supranuclear Palsy