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

Research output: Contribution to journalArticle

26 Citations (Scopus)

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 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 (US)
Pages (from-to)885-888
Number of pages4
JournalMovement Disorders
Volume26
Issue number5
DOIs
StatePublished - Apr 2011

Fingerprint

Substantia Nigra
Parkinson Disease
Mutation
Ultrasonography
Inborn Genetic Diseases
Penetrance
Pathology

Keywords

  • LRRK2
  • Parkinson's disease
  • Substantia nigra
  • Transcranial sonography (TCS)

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Brüggemann, N., Hagenah, J., Stanley, K., Klein, C., Wang, C., Raymond, D., ... Saunders-Pullman, R. (2011). Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Movement Disorders, 26(5), 885-888. https://doi.org/10.1002/mds.23644

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. / Brüggemann, Norbert; Hagenah, Johann; Stanley, Kaili; Klein, Christine; Wang, Cuiling; Raymond, Deborah; Ozelius, Laurie; Bressman, Susan; Saunders-Pullman, Rachel.

In: Movement Disorders, Vol. 26, No. 5, 04.2011, p. 885-888.

Research output: Contribution to journalArticle

Brüggemann, N, Hagenah, J, Stanley, K, Klein, C, Wang, C, Raymond, D, Ozelius, L, Bressman, S & Saunders-Pullman, R 2011, 'Substantia nigra hyperechogenicity with LRRK2 G2019S mutations', Movement Disorders, vol. 26, no. 5, pp. 885-888. https://doi.org/10.1002/mds.23644
Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D et al. Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Movement Disorders. 2011 Apr;26(5):885-888. https://doi.org/10.1002/mds.23644
Brüggemann, Norbert ; Hagenah, Johann ; Stanley, Kaili ; Klein, Christine ; Wang, Cuiling ; Raymond, Deborah ; Ozelius, Laurie ; Bressman, Susan ; Saunders-Pullman, Rachel. / Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. In: Movement Disorders. 2011 ; Vol. 26, No. 5. pp. 885-888.
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