Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.

ABSTRACT: Parkinson's Disease (PD) is the most frequent movement disorder and is second only to Alzheimer's Disease as the most frequent neurodegenerative pathology. Early onset Parkinson's disease (EOPD) is less common and may be characterized by genetic predisposition. NGS testing might be useful in the diagnostic assessment of these patients. A panel of eight genes (SNCA, PRKN, PINK1, DJ1, LRRK2, FBXO7, GBA1 and HFE) was validated and used as a diagnostic tool. A total of 38 in sequence EOPD patients of the Parkinson's Disease Unit of our Hospital Institution were tested. In addition, the number of the hexanucleotide repeats of the C9ORF72 gene and the frequency of main HFE mutations were evaluated. Six patients were carriers of likel

SUBMITTER: Pilotto A 

PROVIDER: S-EPMC11942189 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature