Objective: This study aims to provide a clinical characterization of Parkinson’s disease (PD) patients with LRRK2 mutations, who are being treated at a Portuguese reference center.

Background: LRRK2 mutations are the most common cause of genetic PD and a significant factor in sporadic cases. Portugal has one of the highest prevalence rates of these mutations, found in approximately 4% of patients with sporadic PD and in 14% of those with hereditary PD. Although PD patients with LRRK2 mutation have classically been described as having a clinical phenotype similar to sporadic Parkinson’s disease, characterized by a more indolent disease progression, in recent years, there has been an increasing recognition of clinical heterogeneity in these patients. Despite the relatively limited information available on non-motor symptoms in this patient group, it is believed that they are less susceptible to such symptoms.

Method: We retrospectively reviewed the medical records of 32 PD outpatients with LRRK2 mutations followed in our movement disorders department at Centro Hospitalar e Universitário de Coimbra, E.P.E..

Results: Among our population of patients with PD with LRRK2 mutation, 44% were male and 56% were female. The average age of symptom onset was 54.09 years (95% confidence interval (CI) 50.64-57.55), and the mean disease duration was 14.22 years (95% CI 11.70-16.74). Sporadic PD was diagnosed in 53% of our patients, while 47% had hereditary PD. Akinetic-rigid form was the most prevalent subtype in our population (69%) compared to the tremor-dominant subtype (31%). Advanced therapies were required to 22% of the patients. Most patients experienced motor fluctuations, particularly wearing-off and peak-dose dyskinesia. Intestinal constipation and apathy were the most common non-motor symptoms observed in our population.

Conclusion: The prevalence of LRRK2 mutation in the Portuguese population is significant, underscoring the importance of its clinical characterization. The onset of symptoms occurs at a similar age to that of idiopathic PD, and most patients exhibited the akinetic-rigid form. Despite a prolonged mean disease duration, less than a quarter of patients required advanced therapies. Peak-dose dyskinesia and wearing-off were the most prevalent motor fluctuation in our population and, as previously known in the literature, non-motor symptoms are mostly absent in these patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-characterization-of-parkinsons-disease-patients-with-lrrk2-mutation-insights-from-a-portuguese-reference-center/