Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.
Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.
复制标题
DOI：
10.1002/mds.25647
复制
发表时间：
2013-12
影响因子：
8.6
通讯作者：
Marder, Karen S.
中科院分区：
文献类型：
--
作者：
Alcalay, Roy N.;Mirelman, Anat;Saunders-Pullman, Rachel;Tang, Ming-X;Mejia Santana, Helen;Raymond, Deborah;Roos, Ernest;Orbe-Reilly, Martha;Gurevich, Tanya;Bar Shira, Anat;Weisz, Mali Gana;Yasinovsky, Kira;Zalis, Maayan;Thaler, Avner;Deik, Andres;Barrett, Matthew James;Cabassa, Jose;Groves, Mark;Hunt, Ann L.;Lubarr, Naomi;San Luciano, Marta;Miravite, Joan;Palmese, Christina;Sachdev, Rivka;Sarva, Harini;Severt, Lawrence;Shanker, Vicki;Swan, Matthew Carrington;Soto-Valencia, Jeannie;Johannes, Brooke;Ortega, Robert;Fahn, Stanley;Cote, Lucien;Waters, Cheryl;Mazzoni, Pietro;Ford, Blair;Louis, Elan;Levy, Oren;Rosado, Llency;Ruiz, Diana;Dorovski, Tsvyatko;Pauciulo, Michael;Nichols, William;Orr-Urtreger, Avi;Ozelius, Laurie;Clark, Lorraine;Giladi, Nir;Bressman, Susan;Marder, Karen S.
据报道，有和没有LRRK 2 G2019 S突变的帕金森病（PD）患者的表型是相似的;然而，缺乏大型统一评估的系列。描述LRRK 2 G2019 S突变的德系犹太人（AJ）PD携带者的临床表型。我们研究了553例AJ PD患者，包括65例既往报告的患者，来自三个研究中心（两个在纽约，一个在特拉维夫）。排除GBA突变携带者。评估包括蒙特利尔认知评估（莫卡），统一帕金森氏病评定量表（UMRS），老年抑郁量表（GDS）和非运动症状（NMS）问卷。构建回归模型来测试488名新招募的参与者的临床和人口统计学特征与LRRK 2状态（结果）之间的关联。LRRK 2 G2019 S携带者（n=97）和非携带者（n=391）在年龄和PD发病年龄方面相似。携带者病程较长（8.6年对6.1年，p<0.001），女性患者较多（51.5%对37.9%，p=0.015），下肢首发症状较多（40.0%对19.2%，p<0.001）。在校正了年龄、病程、性别、教育程度和部位的logistic模型中，携带者更可能有下肢发病（p<0.001）、姿势不稳定步态困难（PIGD，p=0.043）和持续左旋多巴反应>5年（p=0.042）。突变状态下，对BMRS、莫卡、GDS和NMS的性能无差异。AJ-LRRK 2 G2019 S突变携带者的PD与特发性PD相似，但其特征是发病时更频繁的下肢受累和PIGD，而无相关的认知障碍。
The phenotype of Parkinson disease (PD) patients with and without LRRK2 G2019S mutations is reported to be similar; however large uniformly evaluated series are lacking. To characterize the clinical phenotype of Ashkenazi Jewish (AJ) PD carriers of the LRRK2 G2019S mutation. We studied 553 AJ PD patients, including 65 patients who were previously reported, from three sites (two in New York and one in Tel-Aviv). GBA mutation carriers were excluded. Evaluations included the Montreal Cognitive Assessment (MoCA), the Unified Parkinson's Disease Rating Scale (UPDRS), the geriatric depression scale (GDS) and the non-motor symptoms (NMS) questionnaire. Regression models were constructed to test the association between clinical and demographic features and LRRK2 status (outcome) in 488 newly recruited participants. LRRK2 G2019S carriers (n=97) and non-carriers (n=391) were similar in age and age-at-onset of PD. Carriers had longer disease duration (8.6years versus 6.1years, p<0.001), were more likely to be women (51.5% versus 37.9%, p=0.015) and more often reported first symptoms in lower extremities (40.0% versus 19.2%, p<0.001). In logistic models adjusted for age, disease duration, gender, education, and site, carriers were more likely to have lower extremity onset (p<0.001), postural instability gait difficulty (PIGD, p=0.043) and persistent levodopa response for>5 years (p=0.042). Performance on UPDRS, MoCA, GDS and NMS did not differ by mutation status. PD in AJ-LRRK2 G2019S mutation carriers is similar to idiopathic PD, but characterized by more frequent lower extremity involvement at onset and PIGD without the associated cognitive impairment.
登录
查看更多内容
影响因子：
11
作者：
HUGHES, AJ;DANIEL, SE;LEES, AJ
通讯作者：
LEES, AJ
影响因子：
9.9
作者：
JANKOVIC, J;MCDERMOTT, M;WEINER, W
通讯作者：
WEINER, W
影响因子：
2.2
作者：
DATH, P;KATONA, P;CORNELIUS, K
通讯作者：
CORNELIUS, K
影响因子：
2.6
作者：
Lifshitz, Michal;Dwolatzky, Tzvi;Press, Yan
通讯作者：
Press, Yan
影响因子：
16.2
作者：
Paisán-Ruíz, C;Jain, S;Singleton, AB
通讯作者：
Singleton, AB