Objective: Our study aimed to evaluate neuromelanin-Magnetic Resonance signal changes in PD patients carrying a LRRK2 mutation.

Background: Specific magnetic resonance (MR) sequences are able to detect substantia nigra (SN) neuromelanin signal changes and accurately discriminate Parkinson’s disease (PD) patients from controls. The identification of biomarkers in LRRK2 gene mutation carriers is relevant for clinical practice, counseling and research.

Methods: This was a comparative cross-sectional study analyzing SN Neuromelanin-MR signal in PD patients carrying LRRK2 mutations, and in controls with no signs or family history of neurodegenerative disorders and in PD patients with no identified LRRK2 mutations, studied with a specific T1-weighted sequence. The primary outcome was SN neuromelanin signal area obtained with semi-automated methods.

Results: 13 PD patients carrying a LRRK2 mutation (10 G2019S, 3 R1441H), 13 PD patients with no identified LRRK2 mutation and 10 controls were included. Neuromelanin signal area was significantly decreased in both LRRK2-related PD and PD with no mutations identified compared to controls. No significant differences were found between LRRK2-related PD and PD with no LRRK2 mutations. Neuromelanin signal area had 92.3% sensitivity and 100% specificity in discriminating LRRK2-related PD, and 100% sensitivity and specificity in discriminating PD with no mutations indentified from controls. 

Conclusions: Neuromelanin-MR images of the SN can accurately differentiate PD patients with LRRK2 mutations from controls. Our results contribute to evaluate neuromelanin sensitive MR imaging as a possible diagnostic biomarker of LRRK2-related PD and supports the need for future studies in neuromelanin-MR imaging in asymptomatic carriers.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/neuromelanin-magnetic-resonance-imaging-of-the-substatia-nigra-in-lrrk2-related-parkinsons-disease/