A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

ABSTRACT: Parkinson's disease (PD) is a multisystem and multifactorial disorder and, therefore, the application of modern genetic techniques may assist in unraveling its complex pathophysiology. We conducted a clinical-demographic evaluation of 126 patients with PD, all of whom were Caucasian and of Sicilian ancestry. DNA was extracted from the peripheral blood for each patient, followed by sequencing using a Next-Generation Sequencing system. This system was based on a custom gene panel comprising 162 genes. The sample underwent further filtering, taking into account the allele frequencies of genetic variants, their presence in the Human Gene Mutation Database, and their association in the literature with PD or other movement/neurodegenerative disorders. The largest number of variants was identifie

SUBMITTER: Salemi M 

PROVIDER: S-EPMC10740523 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature