Year: 2026
Type: dissertation
Abstract: Parkinson's disease is a multifactorial neurodegenerative disorder in which genetic susceptibility interacts with ageing and environmental exposures.This literature review aimed to present the genetic basis of the disease, its principal molecular mechanisms, contemporary genetic investigation methods, and emerging therapeutic approaches.PubMed was searched using filters "in the last five years" and "free full text".Evidence concerning SNCA, LRRK2, PRKN, PINK1, PARK7, and GBA1 was examined, together with alpha-synuclein accumulation, mitochondrial and lysosomal dysfunction, oxidative stress, neuroinflammation, and genome-environment interactions.Current evidence indicates that monogenic forms account for only a limited proportion of cases, whereas most patients have a complex and heterogenous genetic architecture.NGS, GWAS, and polygenic risk scores have expanded variant detection and patient stratification, but their routine clinical utility remains incompletely established.Gene and cell therapies, LRRK2 inhibitors, interventions targeting the GBA1-GCase pathway, and alpha-synuclein immunotherapy are being investigated, although most remain experimental or in early clinical development.Genetic findings may support diagnosis, prognosis, trial recruitment, and family risk assessment, but variable penetrance and variants of uncertain significance complicate interpretation.In conclusion, translation toward precision medicine will require validated biomarkers, ancestrally representative cohorts, long-term controlled trials, standardized interpretation, equitable access to testing, and genetic counselling integrated throughout the clinical pathway.
Author: Μπλαζιάκη, Αναστασία-Ιωάννα Ν.
Language: Greek
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7223523510