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Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.
Mov Disord. 2011 Apr; 26(5):885-8.MD

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.

Authors+Show Affiliations

Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

21312285

Citation

Brüggemann, Norbert, et al. "Substantia Nigra Hyperechogenicity With LRRK2 G2019S Mutations." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 26, no. 5, 2011, pp. 885-8.
Brüggemann N, Hagenah J, Stanley K, et al. Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Mov Disord. 2011;26(5):885-8.
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 : Official Journal of the Movement Disorder Society, 26(5), 885-8. https://doi.org/10.1002/mds.23644
Brüggemann N, et al. Substantia Nigra Hyperechogenicity With LRRK2 G2019S Mutations. Mov Disord. 2011;26(5):885-8. PubMed PMID: 21312285.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. AU - Brüggemann,Norbert, AU - Hagenah,Johann, AU - Stanley,Kaili, AU - Klein,Christine, AU - Wang,Cuiling, AU - Raymond,Deborah, AU - Ozelius,Laurie, AU - Bressman,Susan, AU - Saunders-Pullman,Rachel, Y1 - 2011/02/10/ PY - 2010/08/11/received PY - 2010/12/17/revised PY - 2010/12/28/accepted PY - 2011/2/12/entrez PY - 2011/2/12/pubmed PY - 2011/8/25/medline SP - 885 EP - 8 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 26 IS - 5 N2 - 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. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/21312285/Substantia_nigra_hyperechogenicity_with_LRRK2_G2019S_mutations_ L2 - https://doi.org/10.1002/mds.23644 DB - PRIME DP - Unbound Medicine ER -