Clinical and Genetic Characteristics of Parkinson’s Disease Patients with Substantia Nigra Hyperechogenicity

Hyperechogenicity of the substantia nigra (SN) is observed using transcranial ultrasonography in patients with Parkinson's Disease. In this study, we investigated whether monogenic forms of PD are more prevalent in these patients and clinically defined their characteristics. Eighty-eight PD patients were part of the analysis. All patients received clinical diagnoses from experienced movement disorder specialists. Each patient underwent transcranial ultrasonography and genetic testing for mutations in the <i>SNCA</i>, <i>PRKN</i>, <i>LRRK2</i>, <i>DJ1</i>, and <i>PINK1</i> genes. SN hyperechogenicity was identified in 48 patients. Compared to the non-hyperechogenicity group, these patients did not have monogenic forms of PD more frequently, but they did have REM sleep behavior disorder significantly more often, lived in rural areas, and experienced a later age of disease onset. Our study indicated no association between substantia nigra echogenicity and the presence of mutations in the <i>SNCA</i>, <i>LRRK2</i>, <i>DJ1</i>, <i>PRKN</i>, and <i>PINK1</i> genes. Hyperechogenicity of the substantia nigra, however, remains a common finding in patients with Parkinson's Disease, correlating with certain features of the disease.