Session Information
Date: Wednesday, June 7, 2017
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
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.
To cite this abstract in AMA style:
L. Correia Guedes, R. Bouça, N. Gonçalves, T. Soares, D. Abreu, M. Fabbri, M. Coelho, M.M. Rosa, M. Quadri, T. Outeiro, C. Sampaio, V. Bonifati, J. Ferreira. Motor and Nonmotor clinical phenotype in LRRK2 Parkinson’s disease patients: a Case-control study [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/motor-and-nonmotor-clinical-phenotype-in-lrrk2-parkinsons-disease-patients-a-case-control-study/. Accessed November 2, 2024.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/motor-and-nonmotor-clinical-phenotype-in-lrrk2-parkinsons-disease-patients-a-case-control-study/