A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease.

ABSTRACT: Parkinson's disease (PD), the second most common progressive neurodegenerative disorder, was long believed to be a non-genetic sporadic syndrome. Today, only a small percentage of PD cases with genetic inheritance patterns are known, often complicated by reduced penetrance and variable expressivity. The few well-characterized Mendelian genes, together with a number of risk factors, contribute to the major sporadic forms of the disease, thus delineating an intricate genetic profile at the basis of this debilitating and incurable condition. Along with single nucleotide changes, gene-dosage abnormalities and copy number variations (CNVs) have emerged as significant disease-causing mutations in PD. However, due to their size variability and to the quantitative nature of the assay, CNV genotypi

SUBMITTER: La Cognata V 

PROVIDER: S-EPMC5566182 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature