Movement disorders clinical practice · 2025
The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease.
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Vico Ilaria A Di, Gallo Silvia, Bertoncello Eleonora, Ledda Claudia, Tinazzi Michele, Lopiano Leonardo, Artusi Carlo Alberto
Аннотация
BACKGROUND: Postural abnormalities (PA) can complicate Parkinson's disease (PD). While age and motor severity are established predictors, the genetic role remains underexplored.
OBJECTIVE: To evaluate the influence of major genetic variants on PA development in PD over 4 years.
METHODS: We 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.
RESULTS: SNCA-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.
CONCLUSIONS: Although not significant, the higher PA incidence in SNCA-PD, despite its younger age, suggests that genetic factors may influence PA progression, warranting further studies.
OBJECTIVE: To evaluate the influence of major genetic variants on PA development in PD over 4 years.
METHODS: We 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.
RESULTS: SNCA-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.
CONCLUSIONS: Although not significant, the higher PA incidence in SNCA-PD, despite its younger age, suggests that genetic factors may influence PA progression, warranting further studies.