alpha-Synuclein multiplication analysis in Italian familial Parkinson disease

作者：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^*

来源：Parkinsonism & Related Disorders, 2010, 16(3): 228-231.

DOI：10.1016/j.parkreldis.2009.09.008

• SNCA
• alpha-Synuclein multiplication
• Familial Parkinson's disease
• Gene dosage analysis

The a-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 one patient with SNCA duplication (0.7%)
The SNCA-duplicated patient was a woman of 45 years of age with PD onset at 41 years of age. She experienced a rapidly progressive disease with early motor complications (on/off fluctuations and dyskinesias) Medical records confirmed that the proband's mother developed PD at 47 years of age and died at 63 with dementia. She experienced rapid progression in both motor and cognitive symptoms: development of dementia at 54 years of age, 7 years after onset
Although SNC

• 出版日期2010-3