Article
Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study.
Parkinsonism & related disorders - 1 Nov 2014
Siuda Joanna, Jasinska-Myga Barbara, Boczarska-Jedynak Magdalena, Opala Grzegorz, Fiesel Fabienne C, Moussaud-Lamodière Elisabeth L, Scarffe Leslie A, Dawson Valina L, Ross Owen A, Springer Wolfdieter, Dawson Ted M, Wszolek Zbigniew K
Abstract excerpt
BACKGROUND: Recessive mutations in the PTEN-induced putative kinase 1 (PINK1) gene cause early-onset Parkinson's disease (EOPD). The clinical phenotype of families that have this PINK1-associated disease may present with different symptoms, including typical PD. The loss of the PINK1 protein may...
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