Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

Norbert Brüggemann, Johann Hagenah*, Kaili Stanley, Christine Klein, Cuiling Wang, Deborah Raymond, Laurie Ozelius, Susan Bressman, Rachel Saunders-Pullman

*Corresponding author for this work
22 Citations (Scopus)


Background:: Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD). Methods:: We performed TCS in 34 LRRK2 G2019S mutation carriers manifesting PD, 24 non-manifesting mutation carriers, and 28 idiopathic PD patients and compared them with 40 healthy controls (total, n = 126). Results:: Compared with the controls (mean 0.15 cm2), the aSN values in all other groups were increased. The mean aSN was 0.23 cm2 in nonmanifesting mutation carriers (P =.015), 0.34 cm2 in idiopathic PD patients (P <.0001), 0.32 cm2 in LRRK2-associated PD patients (P <.0001), and 0.33 cm2 in the overall PD group (P <.0001). LRRK2-associated PD patients had a higher aSN than did nonmanifesting carriers (P =.011), but there was no significant difference in aSN between patients with idiopathic and LRRK2-associated PD (P =.439). Conclusions:: Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and LRRK2-associated PD. The findings in the nonmanifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age-dependent reduced penetrance of this mutation.

Original languageEnglish
JournalMovement Disorders
Issue number5
Pages (from-to)885-888
Number of pages4
Publication statusPublished - 01.04.2011


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