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Article

Four Copies of <i>SNCA</i> Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings

1 Jan 2015

Abstract excerpt

Background. Parkinson's disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, and cognitive deterioration. Methods. SNCA dosage was performed using High-Density Comparative Genomic...

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Identifiers

PMID: 26635992
DOI: 10.1155/2015/546462

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