Substantia nigra hyperechogenicity in Parkinson disease patients with leucine-rich repeat kinase 2 variants in the Chinese Han population

摘要

To the Editor: Parkinson disease (PD) is the second most common neurodegenerative disease, and is characterized by both motor and non-motor symptoms. The leucine-rich repeat kinase 2 (LRRK2) gene, characterized by different mutations among different populations, is well-known in both familial and sporadic PD. The frequency of the G2019S mutation is 20% to 40% in the Ashkenazi Jewish and North African Arab populations, while G2385R is a common risk factor associated with Asian populations. Research teams have found that G2385R is also associated with PD in the Chinese Han population, suggesting a clear contribution of this mutation to the Han population, but descriptions of clinical PD symptoms in the Chinese Han population are rare and warrant further G2385R genotype-phenotype analyses. Substantia nigra (SN) hyperechogenicity was determined by transcranial sonography (TCS) in PD patients. It is a risk marker for PD, and associated with altered microstructural changes in white matter, including those areas relevant for motor and limbic function. Previous studies of LRRK2 variants, especially the G2019S mutation, have explored potential associations between Caucasian LRRK2 variants and SN hyperechogenicity,[1–3] but few have addressed Asian populations. Here, we used TCS imaging to compare features of Han Chinese PD patients with and without LRRK2 variants.