The etiology of Parkinson’s disease (PD) is still unclear, but mutations in PRKN have provided
some biological insights. The role of PRKN mutations and other genetic variation in determining
the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in
PD and controls in the Polish population and to try to correlate between the presence of genetic variants
and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluated
clinical features in these patients. We showed that in the Polish population 4% of PD patients had PRKN mutations (single or
with additional polymorphism) while single heterozygous polymorphisms (S167N, E310D, D394N) of PRKN were present in
21% of sporadic PD. Moreover, 5% PD patients had more than one PRKN change (polymorphisms and mutations). Detected
PRKN variants moderately correlated with PD course and response to L-dopa. It also showed that other PARK genes (SNCA,
HTRA2, SPR) mutations probably may additionally influence PD risk and clinical features. PRKN variants are relatively
common in our Polish series of patients with PD. Analysis of the PRKN gene may be useful in determining clinical phenotype,
and helping with diagnostic and prognostic procedures in the future.
Keywords: PARK, PRKN, Genetic variants, Clinical features, Parkinson’s disease.
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