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Substantia nigra hyperechogenicity with LRRK2 G2019S mutations
Author(s) -
Brüggemann Norbert,
Hagenah Johann,
Stanley Kaili,
Klein Christine,
Wang Cuiling,
Raymond Deborah,
Ozelius Laurie,
Bressman Susan,
SaundersPullman Rachel
Publication year - 2011
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23644
Subject(s) - substantia nigra , lrrk2 , parkinson's disease , mutation , penetrance , medicine , gastroenterology , pathology , alpha synuclein , degenerative disease , central nervous system disease , disease , biology , genetics , phenotype , gene
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. © 2011 Movement Disorder Society