English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

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 Hybridization Array (CGH-Array), Multiple Ligation Dependent Probe Amplification (MLPA), and Quantitative PCR (qPCR). Genetic analysis was associated with clinical evaluation.  Results . Genetic analysis of siblings showed for the first time a 351 Kb triplication containing  SNCA  gene along with 6 exons of  MMRN1  gene in 4q22.1 and a duplication of 1,29 Mb of a genomic region flanking the triplication.  Conclusions . The identification of this family indicates a novel mechanism of  SNCA  gene multiplication, which confirms the genomic instability in this region and provides data on the genotype-phenotype correlation in PD patients.

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