Objective: To evaluate whether individuals with one of the seven most common genetic variants associated with Parkinson’s Disease (PD) exhibit differences in physical function performance compared to those without these variants.

Background: PD is the second-most common neurodegenerative disorder in the United States with variable progression and response to treatment. Physical therapy (PT) is a key component of symptom management, but individual response to PT interventions is variable. Genetic variations, particularly in GBA1, LRRK2, PRKN, SNCA, PINK1, PARK7, and VPS35, may influence motor function and neuroplasticity. Identifying associations between genotype and functional performance could inform personalized rehabilitation strategies.

Method: A retrospective chart review was conducted using electronic health records from the Northwestern Medicine Movement Disorders Clinic and Shirley Ryan AbilityLab. Individuals in early PD stage, referred for proactive PT, and who had Parkinson’s genetic testing results available were included in this analysis. Functional outcomes including gait speed, balance assessments (Mini BESTest, Functional Gait Assessment (FGA)), and mobility tests (self-selected and fastest gait speeds, Timed Up and Go (TUG), 5 Time Sit-to-Stand (5TSTS), and Six-Minute Walk (6MW)) were compared between genetic variant-positive and genetic variant-negative groups.

Results: Of 86 individuals meeting inclusion criteria, 16 (18.6%) carried at least one genetic variant, with LRRK2 and GBA1 being most prevalent. No significant differences were observed in gait speed, FGA, 6MW, 5TSTS, or TUG performance between groups. However, individuals with genetic variants demonstrated significantly lower Mini BESTest scores (p=0.020), suggesting there may be reduced balance performance.

Conclusion: Genetic variations may influence physical therapy metrics in early PD, particularly in balance-related tasks. Larger studies investigating the link between genetic polymorphisms related to PD and functional performance should be conducted to explore this relationship further. Future research should also explore long-term response to exercise therapies and genotype-specific exercise adaptations to optimize rehabilitation outcomes. These findings contribute to a growing body of evidence supporting precision medicine approaches in PD management.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/studying-the-influence-of-genetic-variations-on-functional-performance-in-parkinsons-disease/