# The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease

**Authors:** Ilaria A. Di Vico, Silvia Gallo, Eleonora Bertoncello, Claudia Ledda, Michele Tinazzi, Leonardo Lopiano, Carlo Alberto Artusi

PMC · DOI: 10.1002/mdc3.70290 · Movement Disorders Clinical Practice · 2025-08-13

## TL;DR

This study explores whether genetic factors influence the development of postural abnormalities in Parkinson's disease patients over four years.

## Contribution

The study investigates the role of specific genetic variants in the progression of postural abnormalities in Parkinson's disease.

## Key findings

- SNCA-PD patients showed the highest postural abnormality incidence despite being the youngest at onset.
- No significant differences in postural abnormality prevalence were found across genetic groups at baseline or after four years.
- Genetic status was not a significant predictor for postural abnormality development.

## Abstract

Postural abnormalities (PA) can complicate Parkinson's disease (PD). While age and motor severity are established predictors, the genetic role remains underexplored.

To evaluate the influence of major genetic variants on PA development in PD over 4 years.

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.

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.

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.

## Linked entities

- **Genes:** GBA1 (glucosylceramidase beta 1) [NCBI Gene 2629], LRRK2 (leucine rich repeat kinase 2) [NCBI Gene 120892], SNCA (synuclein alpha) [NCBI Gene 6622]
- **Diseases:** Parkinson's disease (MONDO:0005180)

## Full-text entities

- **Genes:** LRRK2 (leucine rich repeat kinase 2) [NCBI Gene 120892] {aka AURA17, DARDARIN, PARK8, RIPK7, ROCO2}, SNCA (synuclein alpha) [NCBI Gene 6622] {aka NACP, PARK1, PARK4, PD1}
- **Diseases:** PD (MESH:D010300), PA (MESH:D054972)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

17 references — full list in the complete paper: https://tomesphere.com/paper/PMC12839473/full.md

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Source: https://tomesphere.com/paper/PMC12839473