Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease

Abstract

Specific T-weighted MRI sequences are able to detect SN neuromelanin (NM) signal changes and accurately discriminate Parkinson’s disease (PD) patients from controls. The study of NM-MRI in PD patients carrying a LRRK2 gene mutation (LRRK2-PD) could contribute to further uncover LRRK2-associated phenotype. Albeit considered to largely overlap idiopathic PD (iPD), differences have been described. Furthermore, the identification of a biomarker of neurodegeneration in LRRK2-PD can eventually support studies in asymptomatic carriers. Castellanos and colleagues5 found NM-MRI SN volumes significantly reduced in both idiopathic and LRRK2-PD (3 G2019S and 4 R1441G PD patients).