Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation

被引：16
|
作者：
Riboldi, Giulietta Maria [1 ]
Palma, Jose-Alberto [2 ]
Cortes, Etty [3 ]
Iida, Megan A. [3 ,4 ]
Sikder, Tamjeed [3 ,4 ]
Henderson, Brooklyn [1 ]
Raj, Towfique [4 ,5 ]
Walker, Ruth H. [6 ,7 ]
Crary, John F. [3 ,4 ]
Kaufmann, Horacio [2 ]
Frucht, Steven [1 ]
机构：
[1] NYU, Sch Med, Dept Neurol, Fresco Inst Parkinsons & Movement Disorders, New York, NY USA
[2] NYU, Sch Med, Dept Neurol, Dysauton Ctr, New York, NY USA
[3] Icahn Sch Med Mt Sinai, Dept Pathol, New York, NY 10029 USA
[4] Icahn Sch Med Mt Sinai, Ronald M Loeb Ctr Alzheimers Dis, Friedman Brain Inst, Fishberg Dept Neurosci, New York, NY 10029 USA
[5] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
[6] James J Peters Vet Affairs Med Ctr, Bronx, NY USA
[7] Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA
来源：
MOVEMENT DISORDERS | 2019年 / 34卷 / 07期
基金：
美国国家卫生研究院;
关键词：
PARKINSONS-DISEASE; RISK; PENETRANCE; VARIANTS;
D O I：
10.1002/mds.27710
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1080 / 1082
页数：3
相关论文
共 50 条
  • [1] LRRK2 G2019S Mutation in Multiple System Atrophy, A Case Report
    Carrer, T.
    Bonato, G.
    Sandre, M.
    Emmi, A.
    Antonini, A.
    MOVEMENT DISORDERS, 2023, 38 : S66 - S66
  • [2] Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation
    Tommaso Carrer
    Giulia Bonato
    Michele Sandre
    Aron Emmi
    Marta Campagnolo
    Giulia Musso
    Miryam Carecchio
    Piero Parchi
    Angelo Antonini
    Neurological Sciences, 2024, 45 : 309 - 313
  • [3] Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation
    Carrer, Tommaso
    Bonato, Giulia
    Sandre, Michele
    Emmi, Aron
    Campagnolo, Marta
    Musso, Giulia
    Carecchio, Miryam
    Parchi, Piero
    Antonini, Angelo
    NEUROLOGICAL SCIENCES, 2024, 45 (01) : 309 - 313
  • [4] The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy
    Cho, Jin-Whan
    Kim, Sung-Yeon
    Park, Sung-Sup
    Jeon, Beom S.
    JOURNAL OF CLINICAL NEUROLOGY, 2009, 5 (01): : 29 - 32
  • [5] Motor Phenotype of LRRK2 G2019S Carriers in Early-Onset Parkinson Disease
    Alcalay, Roy N.
    Mejia-Santana, Helen
    Tang, Ming Xin
    Rosado, Llency
    Verbitsky, Miguel
    Kisselev, Sergey
    Ross, Barbara M.
    Louis, Elan D.
    Comella, Cynthia L.
    Colcher, Amy
    Jennings, Danna
    Nance, Martha A.
    Bressman, Susan
    Scott, William K.
    Tanner, Caroline
    Mickel, Susan F.
    Andrews, Howard F.
    Waters, Cheryl H.
    Fahn, Stanley
    Cote, Lucien J.
    Frucht, Steven J.
    Ford, Blair
    Rezak, Michael
    Novak, Kevin
    Friedman, Joseph H.
    Pfeiffer, Ronald
    Marsh, Laura
    Hiner, Bradley
    Siderowf, Andrew
    Caccappolo, Elise
    Ottman, Ruth
    Clark, Lorraine N.
    Marder, Karen S.
    ARCHIVES OF NEUROLOGY, 2009, 66 (12) : 1517 - 1522
  • [6] Prevalence of G2019S LRRK2 mutation in Brazil
    Munhoz, R. P.
    Teive, H. A. G.
    Raskin, S.
    Werneck, L. C.
    Sato, C.
    Moreno, D.
    Rogaeva, E.
    MOVEMENT DISORDERS, 2008, 23 (01) : S48 - S48
  • [7] Clinical heterogeneity of the LRRK2 G2019S mutation
    Papapetropoulos, Spiridon
    Singer, Carlos
    Ross, Owen A.
    Toft, Mathias
    Johnson, Joseph L.
    Farrer, Matthew J.
    Mash, Deborah C.
    ARCHIVES OF NEUROLOGY, 2006, 63 (09) : 1242 - 1246
  • [8] Motor phenotype of LRRK2 G2019S carriers in early onset PD
    Alcalay, R.
    Clark, L.
    Mejia-Santana, H.
    Tang, M.
    Rosado, L.
    Louis, E.
    Comella, C.
    Colcher, A.
    Jennings, D.
    Nance, M.
    Bressman, S.
    Scott, W.
    Tanner, C.
    Mickel, S.
    Andrews, H.
    Waters, C.
    Fahn, S.
    Ross, B.
    Cote, L.
    Frucht, S.
    Rezak, M.
    Ford, B.
    Novak, K.
    Friedman, J.
    Pfeiffer, R.
    Marsh, L.
    Caccappolo, E.
    Hiner, B.
    Siderowf, A.
    Ottman, R.
    Marder, K.
    MOVEMENT DISORDERS, 2009, 24 : S134 - S134
  • [9] Analysis of the LRRK2 G2019S mutation in Alzheimer disease
    Zabetian, CP
    Lauricella, CJ
    Tsuang, DW
    Leverenz, JB
    Schellenberg, GD
    Payami, H
    ARCHIVES OF NEUROLOGY, 2006, 63 (01) : 156 - 157
  • [10] Olfactory dysfunction in LRRK2 G2019S mutation carriers
    Saunders-Pullman, R.
    Stanley, K.
    Wang, C.
    San Luciano, M.
    Shanker, V.
    Hunt, A.
    Severt, L.
    Raymond, D.
    Ozelius, L. J.
    Lipton, R. B.
    Bressman, S. B.
    NEUROLOGY, 2011, 77 (04) : 319 - 324
12345