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

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(6), С. 2397 - 2397

Опубликована: Март 7, 2025

Parkinson’s Disease (PD) is the most frequent movement disorder and second only to Alzheimer’s as neurodegenerative pathology. Early onset disease (EOPD) less common may be characterized by genetic predisposition. NGS testing might useful in diagnostic assessment of these patients. A panel eight genes (SNCA, PRKN, PINK1, DJ1, LRRK2, FBXO7, GBA1 HFE) was validated used a tool. total 38 sequence EOPD patients Unit our Hospital Institution were tested. In addition, number hexanucleotide repeats C9ORF72 gene frequency main HFE mutations evaluated. Six carriers likely pathogenic heterozygosity analyzed genes, one them presented association another had complex background. Their clinical symptoms correlated with their genotypes. cohort patients, p.Cys282Tyr significantly decreased dominant model allele contrast comparison. Only patient containing 10 identified clinically described. The signs sporadic monogenic PD are often very similar; for this reason, it fundamental correlate genotypes phenotypes, we tried describe here, better classify aim deepen knowledge molecular mechanisms involved collaborate reaching personalized management treatment.

Язык: Английский

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Investigating cuproptosis and mitochondrial dysfunction in brain cells: uncovering novel mechanisms and biomarkers for Parkinson’s disease

Metabolic Brain Disease, Год журнала: 2025, Номер 40(3)

Опубликована: Март 12, 2025

Язык: Английский

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Early Onset Parkinson’s disease: Taking a closer look

Parkinsonism & Related Disorders, Год журнала: 2024, Номер unknown, С. 107164 - 107164

Опубликована: Окт. 1, 2024

Язык: Английский

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