| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10745173 | Parkinsonism & Related Disorders | 2014 | 5 Pages |
Abstract
The PINK1 p.Q456X mutation leads to a decrease in mRNA and a loss of protein function. The foot dystonia and gait disorders seen at disease onset in affected members of our family, which were accompanied by parkinsonism had a similar clinical presentation to what has been described in previous reports of PINK1 mutation carriers.
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Authors
Joanna Siuda, Barbara Jasinska-Myga, Magdalena Boczarska-Jedynak, Grzegorz Opala, Fabienne C. Fiesel, Elisabeth L. Moussaud-Lamodière, Leslie A. Scarffe, Valina L. Dawson, Owen A. Ross, Wolfdieter Springer, Ted M. Dawson, Zbigniew K. Wszolek,