Analysis of PITX3 Gene in Patients with Multisystem Atrophy, Progressive Supranuclear Palsy and Corticobasal Degeneration

作者：Jamrozik Zygmunt^*; Berdynski Mariusz; Zekanowski Cezary; Baranczyk Kuzma Anna; Slawek Jaroslaw; Kuzma Kozakiewicz Magdalena; Maruszak Aleksandra; Kwiecinski Hubert

来源：Annals of Clinical and Laboratory Science, 2013, 43(2): 151-153.

• PITX3 gene-Multisystem atrophy- Progressive Supranuclear Palsy- Corticobasal Degeneration

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 PI7X3 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.

• 出版日期2013