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.
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 LRRK2G2019S mutation carriers manifesting PD, 24 non-manifesting mutation carriers, and 28 idiopathic PDpatients 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 PDpatients (P < .0001), 0.32 cm(2) in LRRK2-associated PDpatients (P < .0001), and 0.33 cm(2) in the overall PD group (P < .0001). LRRK2-associated PDpatients 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.
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Authors: M J Barrett; J Hagenah; V Dhawan; S Peng; K Stanley; D Raymond; A Deik; S J Gross; N Schreiber-Agus; A Mirelman; K Marder; L J Ozelius; D Eidelberg; S B Bressman; R Saunders-Pullman Journal: Parkinsonism Relat Disord Date: 2012-10-10 Impact factor: 4.891