Article
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.
Parkinsonism & related disorders - 1 Mar 2010
Sironi Francesca, Trotta Luca, Antonini Angelo, Zini Michela, Ciccone Roberto, Della Mina Erika, Meucci Nicoletta, Sacilotto Giorgio, Primignani Paola, Brambilla Tiziana, Coviello Domenico A, Pezzoli Gianni, Goldwurm Stefano
Abstract excerpt
The alpha-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson Disease (PD): triplication is associated with early-onset rapidly progressing parkinsonism with a strong likelihood of developing dementia, while duplication is associated with a less severe phenotype similar to idiopathic PD. We tested for SNCA multiplication 144 unrelated PD patients with a dominant family history. We identified...
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