Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.
Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.
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DOI：
10.1002/mds.23644
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发表时间：
2011-04
影响因子：
8.6
通讯作者：
Saunders-Pullman, Rachel
中科院分区：
文献类型：
--
作者：
Brueggemann, Norbert;Hagenah, Johann;Stanley, Kaili;Klein, Christine;Wang, Cuiling;Raymond, Deborah;Ozelius, Laurie;Bressman, Susan;Saunders-Pullman, Rachel
特发性和遗传性帕金森病（PD）患者黑质（aSN）的经颅超声（TCS）高回声区增加。我们对34例LRRK2 G2019S突变携带者、24例非突变携带者和28例特发性PD患者进行了TCS，并将其与40例健康对照者（共n=126）进行了比较。与对照组（平均0.15 cm 2）相比，所有其他组的aSN值均增加。平均aSN在未显示突变携带者中为0.23 cm 2（p=0.015），在特发性PD患者中为0.34 cm 2（p<0.0001），在LRRK2相关PD患者中为0.32 cm 2（p<0.0001）。而总PD组为0.33 cm 2（p<.0001）。LRRK2相关PD患者的aSN高于非显性携带者（p=0.011），但特发性和LRRK2相关PD患者之间的aSN无显著差异（p=0.439）。我们的研究结果表明，SN病理解剖学改变可能没有实质性的不同特发性和LRRK2相关的PD。在非显性突变携带者中的发现表明存在中间黑质纹状体病理学，这与该突变的年龄依赖性降低的突变率一致。
Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson’s disease (PD). We performed TCS in 34 LRRK2 G2019S mutation carriers manifesting PD, 24 non-manifesting mutation carriers and 28 idiopathic PD patients and compared them to 40 healthy controls (total n=126). Compared to controls (mean 0.15 cm2), the aSN values in all other groups were increased. The mean aSN was 0.23 cm2 in non-manifesting mutation carriers (p=0.015), 0.34 cm2 in idiopathic PD patients (p<0.0001), 0.32 cm2 in LRRK2-associated PD patients (p<0.0001). and 0.33 cm2 in the overall PD group (p<.0001). LRRK2-associated PD patients had higher aSN than non-manifesting carriers (p=0.011), but there was no significant difference in aSN between patients with idiopathic and LRRK2-associated PD (p=0.439). Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and LRRK2-associated PD. The findings in the non-manifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age-dependent reduced penetrance of this mutation.
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影响因子：
9.9
作者：
Walter, U;Niehaus, L;Dressler, D
通讯作者：
Dressler, D
影响因子：
5.7
作者：
Ruprecht-Dörfler, P;Berg, D;Becker, G
通讯作者：
Becker, G
影响因子：
6
作者：
Schweitzer, Katherine J.;Bruessel, Theresa;Berg, Daniela
通讯作者：
Berg, Daniela
影响因子：
8.6
作者：
Saunders-Pullman, Rachel;Hagenah, Johann;Dhawan, Vijay;Stanley, Kaili;Pastores, Gregory;Sathe, Swati;Tagliati, Michele;Condefer, Kelly;Palmese, Christina;Brueggemann, Norbert;Klein, Christine;Roe, A. M.;Kornreich, Ruth;Ozelius, Laurie;Bressman, Susan
通讯作者：
Bressman, Susan
影响因子：
8.6
作者：
Sommer, U;Hummel, T;Reichmann, H
通讯作者：
Reichmann, H