Parkinson Hastalığı'nda Axial Postural Anormalliklerin Erken Gelişiminde Genetiklerin Etkisi.

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BackgroundPostural abnormalities (PA) can complicate Parkinson's disease (PD). While age and motor severity are established predictors, the genetic role remains underexplored.ObjectiveTo evaluate the influence of major genetic variants on PA development in PD over 4 years.MethodsWe analyzed 429 patients from Parkinson's Progression Markers Initiative, including GBA, LRRK2 and SNCA mutation carriers. PA were assessed using the MDS-UPDRS-III item 3.13 and risk factors were analyzed with Cox uncertain regression.ResultsSNCA-PD patients were the youngest at onset (50.8 years) and showed the highest PA cumulative incidence over 4 years (30%), followed by GBA-PD (25.8%), idiopathic PD (23%), and LRRK2-PD (17.2%). No significant differences in PA prevalence were found across groups at baseline or at the 4-year follow-up, and genetic status was not a predictor for PA development.ConclusionsAlthough not significant, the higher PA incidence in SNCA-PD, despite its younger age, suggests that genetic factors may influence PA progression, warranting further studies.

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