Objective: We aim to describe the clinical characteristics of PD linked to an LRRK2 mutation.

Background: One of the most common monogenic forms of Parkinson’s disease (PD) is caused by mutations in the LRRK2 gene. LRRK2 gene mutations are observed in patients with autosomal dominant PD or idiopathic PD.

Method: A retrospective study of 18 patients followed for PD with a duration of evolution of less than 5 years, benefited from a genetic study via the Sanger sequencing technique in search of the LRRK2 mutation. We described demographic, clinical, and therapeutic characteristics.

Results: We included 18 patients followed for PD. A male predominance is seen in our cohort. (12 male and 6 female). The LRRK2 gene mutation was found in seven patients. Patients with the gene mutation had a mean age of 55.4 years and were predominantly male (5H/2F). The heaviness of a limb or hemi-body is the most frequent reason for initial consultation. Six patients had tremor-akinetic-rigid parkinsonism. Rest tremor was identified in half the patients. Typical non-motor signs were not found in any of our patients. Brain imaging was normal in all patients. All patients were at stage 1 or 2 of the Hohn and Yahr scale and had received at least two anti-parkinsonian treatments including L-Dopa.

Previous studies have established the pathogenic role of the LRRK2 gene mutation in genetic and idiopathic Parkinson’s disease. In line with the results of our study, there was no clinical difference between the two groups of patients with or without LRRK2 gene mutation. A good response to antiparkinsonian treatment is identified in patients with LRRK2 gene mutation.

Conclusion: Genetic studies are of great interest in patients with idiopathic PD to develop targeted molecular therapies and improve functional prognosis.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/lrrk2-gene-mutation-in-parkinsons-disease/