Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Apr;26(5):885-8.
doi: 10.1002/mds.23644. Epub 2011 Feb 10.

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

Norbert Brüggemann  1 , Johann Hagenah, Kaili Stanley, Christine Klein, Cuiling Wang, Deborah Raymond, Laurie Ozelius, Susan Bressman, Rachel Saunders-Pullman
Affiliations

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

Norbert Brüggemann et al. Mov Disord. 2011 Apr.

Abstract

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 cm(2) ), the aSN values in all other groups were increased. The mean aSN was 0.23 cm(2) in nonmanifesting mutation carriers (P = .015), 0.34 cm(2) in idiopathic PD patients (P < .0001), 0.32 cm(2) in LRRK2-associated PD patients (P < .0001), and 0.33 cm(2) 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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
MRI (A.) and sonographic images (B.) of an axial section at the midbrain level upon TCS. The rectangle in (B.) denotes the area to be zoomed in for evaluation of the midbrain structures as is shown in the lower row. The butterfly-shaped midbrain and the SN echogenicity have been encircled in representative TCS images of each subgroup (C.). The diagram in (D.) shows the mean values for the aSNmax according to the clinical and mutational status. Age did not influence the aSN differences between the subgroups. NMC – non-manifesting mutation carrier, MC – manifesting mutation carrier
See this image and copyright information in PMC

References

    1. Walter U, Behnke S, Eyding J, et al. Transcranial brain parenchyma sonography in movement disorders: state of the art. Ultrasound Med Biol. 2007;33(1):15–25. - PubMed
    1. Hagenah JM, Becker B, Brüggemann N, et al. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. J Neurol Neurosurg Psychiatry. 2008;79(9):1071–1074. - PubMed
    1. Hagenah JM, Konig IR, Becker B, et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol. 2007;254(10):1407–1413. - PubMed
    1. Schweitzer KJ, Brussel T, Leitner P, et al. Transcranial ultrasound in different monogenetic subtypes of Parkinson’s disease. J Neurol. 2007;254(5):613–616. - PubMed
    1. Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord. 2004;19(12):1445–1449. - PubMed

Publication types

MeSH terms