Objective: Our study aimed to characterize and compare the clinical phenotype of LRRK2-PD patients with PD patients with no identified mutations.

Background: The clinical phenotype of Parkinson’s disease (PD) patients carrying LRRK2 gene mutations (LRRK2-PD) has been considered to generally overlap with idiopathic PD (iPD). Identification of differences is of utmost importance for clinical practice, counseling and research.

Methods: Case-control 1:2 cross-sectional study comparing LRRK2-PD patients versus PD patients with no identified mutations, matched for age of onset, disease duration and gender. Our primary outcome was MDS-UPDRS part III. Secondary outcomes concerned other scales and questionnaires on motor and nonmotor symptoms. Additionally, we retrospectively studied the presence of previous motor and non-motor symptoms. A logistic regression model was used to identify LRRK2 carrier status predictors.

Results: 24 LRRK2-PD patients and 48 PD controls were included.  LRRK2-PD group had mean age at first motor symptoms and mean disease duration of 53.2±13.5 and 16.0±8.7 years, respectively. No significant differences between groups were found for MDS-UPDRS III. LRRK2-PD patients presented significantly less frequent nocturia and lower nocturia score in the Non-Motor Symptoms Questionnaire and Scale, respectively. REM sleep behavior disorder (RBD) was significantly less reported if ever present. The Odds Ratio of a PD patient not carrying a LRRK2 mutation was 7.96 if RBD related symptoms were reported.

Conclusions: Our results confirm that even for patients with long disease duration, the LRRK2-associated motor phenotype largely overlaps with iPD.  Nocturia and RBD were significantly less frequent and emerged as main differences that require further investigation.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/motor-and-nonmotor-clinical-phenotype-in-lrrk2-parkinsons-disease-patients-a-case-control-study/