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Objective <p>The <i>GBA1</i> related Parkinson’s disease (PD) is associated with more severe non-motor symptoms. To date, studies of the role of <i>GBA1</i> mutations in the occurrence of impulse control behaviours (ICBs) in PD have yielded controversial results. Our aim was to investigate the frequency and characteristics of ICBs in PD patients with <i>GBA1</i> mutations.</p> Methods <p>213 consecutive PD patients were included. Clinical data were gathered via interviews and using the standard set of questionnaires. Genetic analysis of exons 8–11 of the <i>GBA1</i> gene was performed for all participants.</p> Results <p><i>GBA1</i> variants were detected in 32 out of 213 patients (GBA-PD). ICBs were more frequent in GBA-PD (31.2%) than in non-mutated PD (nmPD) group (25.9%), though not significantly. Among patients with ICBs and <i>GBA1</i> variants female sex predominance was observed (60%, <i>p</i> = 0.022). GBA-PD patients with ICBs had a significantly shorter disease and therapy duration, lower total LEDD and QUIP when comparing to nmPD with ICBs. Binary logistic regression showed that age, BDI score, LEDD, and male sex significantly predicted ICBs in the whole sample. In the GBA-PD group, only dopamine agonist use, and a lower UPDRS Part I score were significant predictors.</p> Conclusion <p>Dopaminergic treatment is a significant risk factor for ICBs, irrespective of <i>GBA1</i> mutation status. <i>GBA1</i> mutations may increase susceptibility to dopaminergic dose-related ICBs adverse effects, particularly in PD patients with fewer non-motor symptoms, and may affect the sex distribution in PD patients with ICBs, potentially attenuating the male predominance.</p>

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Is GBA1 mutation status a game-changer for impulse control behaviour in Parkinson's disease?

  • 期刊论文

  • 发表日期：

    2025年8月26日

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  • Nikola Kresojević,
  • Vladana Marković,
  • Cveta Geratović,
  • Milica Ječmenica Lukić,
  • Aleksandra Tomić,
  • Valerija Dobričić,
  • Iva Stanković,
  • Tanja Stojković,
  • Nataša Dragašević,
  • Maksim Šarčević,
  • Milena Janković,
  • Ana Marjanović,
  • Ivana Novaković,
  • Vladimir Kostić,
  • Marina Svetel,
  • Igor Petrović

摘要

Objective

The GBA1 related Parkinson’s disease (PD) is associated with more severe non-motor symptoms. To date, studies of the role of GBA1 mutations in the occurrence of impulse control behaviours (ICBs) in PD have yielded controversial results. Our aim was to investigate the frequency and characteristics of ICBs in PD patients with GBA1 mutations.

Methods

213 consecutive PD patients were included. Clinical data were gathered via interviews and using the standard set of questionnaires. Genetic analysis of exons 8–11 of the GBA1 gene was performed for all participants.

Results

GBA1 variants were detected in 32 out of 213 patients (GBA-PD). ICBs were more frequent in GBA-PD (31.2%) than in non-mutated PD (nmPD) group (25.9%), though not significantly. Among patients with ICBs and GBA1 variants female sex predominance was observed (60%, p = 0.022). GBA-PD patients with ICBs had a significantly shorter disease and therapy duration, lower total LEDD and QUIP when comparing to nmPD with ICBs. Binary logistic regression showed that age, BDI score, LEDD, and male sex significantly predicted ICBs in the whole sample. In the GBA-PD group, only dopamine agonist use, and a lower UPDRS Part I score were significant predictors.

Conclusion

Dopaminergic treatment is a significant risk factor for ICBs, irrespective of GBA1 mutation status. GBA1 mutations may increase susceptibility to dopaminergic dose-related ICBs adverse effects, particularly in PD patients with fewer non-motor symptoms, and may affect the sex distribution in PD patients with ICBs, potentially attenuating the male predominance.