Young-onset Parkinsonʼs disease: a contemporary view of the problem

Abstract

Background. Young-onset Parkinsonʼs disease (YOPD) is considered a clinically and genetically heterogeneous form of neurodegenerative pathology characterized by disease onset before the age of 50 years. Despite lower prevalence compared with classical Parkinsonʼs disease, YOPD is associated with substantial medical and social burden due to early impairment of professional, social, and cognitive functioning. Contemporary studies indicate an important role of genetic factors, prodromal non-motor manifestations, and neuroimaging methods in early disease detection. Purpose – to summarize current literature data regarding clinical, genetic, and neuroimaging aspects of young-onset Parkinsonʼs disease diagnostics. Materials and methods. An analytical review of scientific publications indexed in PubMed, Scopus, Web of Science, and Google Scholar databases during 2021–2026 was performed. The search strategy included the keywords «young-onset Parkinsonʼs disease», «early-onset Parkinsonʼs disease», «diagnosis», «genetics», «biomarkers»,«DAT-SPECT», and «neuroimaging». Results. Analysis of contemporary literature demonstrated that YOPD is characterized by pronounced clinical and genetic heterogeneity. The most common genetic mutations include PARK2, PINK1, DJ-1, LRRK2, and GBA. Young patients are characterized by slower progression of motor symptoms, early development of motor fluctuations, dystonic manifestations, and significant psychoemotional disturbances. Major difficulties of early diagnosis are associated with nonspecific prodromal symptoms, lack of universal biomarkers, and complexity of differential diagnosis. Promising directions in modern YOPD diagnostics include DAT-SPECT neuroimaging, molecular genetic testing, and artificial intelligence algorithms. Conclusions. Young-onset Parkinsonʼs disease is a complex multifactorial neurodegenerative disorder requiring a comprehensive multidisciplinary diagnostic approach. Further development of personalized medicine and identification of novel biomarkers may improve early detection of YOPD.