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  • Genetic Study of Early Onse...
    Abu Manneh, Rana; Chairta, Paraskevi P; Mitsi, Ellie; Loizidou, Maria A; Georgiou, Andrea N; Christou, Yiolanda P; Pantzaris, Marios; Zamba-Papanicolaou, Eleni; Hadjisavvas, Andreas

    International journal of molecular sciences, 12/2022, Letnik: 23, Številka: 23
    Journal Article

    Parkinson's Disease (PD) is a multifactorial neurodegenerative disease characterized by motor and non-motor symptoms. The etiology of PD remains unclear. However, several studies have demonstrated the interplay of genetic, epigenetic, and environmental factors in PD. Early-onset PD (EOPD) is a subgroup of PD diagnosed between the ages of 21 and 50. Population genetic studies have demonstrated great genetic variability amongst EOPD patients. Hence, this study aimed to obtain a genetic landscape of EOPD in the Cypriot population. Greek-Cypriot EOPD patients ( = 48) were screened for variants in the six most common EOPD-associated genes ( , , , , , and ). This included DNA sequencing and Multiplex ligation-dependent probe amplification (MLPA). One previously described frameshift variant in (NM_032409.3:c.889del) was detected in five patients (10.4%)-the largest number to be detected to date. Copy number variations in the gene were identified in one homozygous and 3 compound heterozygous patients (8.3%). To date, the pathogenic variants identified in this study have explained the PD phenotype for 18.8% of the EOPD cases. The results of this study may contribute to the genetic screening of EOPD in Cyprus.