Article
Increase of oxidative stress by a novel PINK1 mutation, P209A.
Free radical biology & medicine - 1 May 2013
Chien Wei-Lin, Lee Tzeng-Ruei, Hung Shih-Ya, Kang Kai-Hsiang, Wu Ruey-Meei, Lee Ming-Jen, Fu Wen-Mei
Abstract excerpt
Mutation in the human PTEN-induced protein kinase 1 (PINK1) gene is responsible for the second most common form of recessive Parkinson disease (PD). We have identified a single heterozygous PINK1 mutation, P209A, from a cohort of 68 patients with early onset PD. From age 31, this patient developed an asymmetric bradykinesia with rigidity that was L-DOPA responsive. An [(18)F]-fluorodopa PET scan showed reduced...
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