Article
Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra.
Journal of neural transmission (Vienna, Austria : 1996) - 1 Apr 2004
Deplazes J, Schöbel K, Hochstrasser H, Bauer P, Walter U, Behnke S, Spiegel J, Becker G, Riess O, Berg D
Abstract excerpt
IRP2 plays an important role in brain iron metabolism. We recently identified an increased amount of iron in patients with Parkinson's disease (PD) and hyperchogenicity of the substantia nigra (SN). Therefore, the IRP2 gene was screened for mutations in 176 PD patients with increased echogenicity of the SN. We identified one non-synonymous polymorphism (I888V) in exon 21 and a -88C > T polymorphism in the...
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