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Mov Disord. 2011 Apr;26(5):885-8. doi: 10.1002/mds.23644. Epub 2011 Feb 10.

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.

Author information

1
Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany.

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.

PMID:
21312285
PMCID:
PMC3082617
DOI:
10.1002/mds.23644
[Indexed for MEDLINE]
Free PMC Article

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