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Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism

2005; Elsevier BV; Volume: 382; Issue: 3 Linguagem: Inglês

10.1016/j.neulet.2005.03.034

1872-7972

Hao Deng, Wei-Dong Le, Wenjie Xie, Tian-Hong Pan, Xiong Zhang, Joseph Jankovic,

Neurological disorders and treatments

Parkin co-regulated gene (PACRG) is a recently identified gene which is transcriptionally co-regulated with parkin gene (PRKN) by a shared bidirectional promoter. To determine whether early-onset parkinsonism (EOP) is associated with PACRG mutation, we screened 112 patients with EOP and found three nucleotide variants: (1) T>C transition in intron 2 (nt 87004; NT_007422), (2) C>T transition (L214L) in exon 6 (nt 585706; NT_007422), and (3) T>A substitution in intron 5 (nt 585630; NT_007422), located 18 bp upstream from exon 6. Since none of these variations appear to be pathogenically relevant, our results suggest that mutation of PACRG plays little or no role in the development of EOP.