Early-onset Alzheimer's disease due to novel LDLR gene mutation

被引:3
作者
Perkovic, Romana [1 ]
Francic, Manuela [2 ]
Petrovic, Ratimir [3 ]
Ozretic, David [4 ]
Skara, Stipe [5 ]
Pecin, Ivan [6 ]
Borovecki, Fran [1 ]
机构
[1] Univ Hosp Ctr Zagreb, Dept Neurol, Zagreb, Croatia
[2] Univ Zagreb, Sch Med, Zagreb, Croatia
[3] Univ Hosp Ctr Zagreb, Dept Nucl Med & Radiat Protect, Zagreb, Croatia
[4] Univ Hosp Ctr Zagreb, Dept Diagnost & Intervent Neuroradiol, Zagreb, Croatia
[5] Gen Hosp Zadar, Dept Neurol, Zadar, Croatia
[6] Univ Hosp Ctr Zagreb, Dept Internal Med, Zagreb, Croatia
关键词
Dementia; Early-onset Alzheimer's disease; Familial hypercholesterolemia; Genetics; LDLR; DENSITY-LIPOPROTEIN RECEPTOR; FAMILIAL HYPERCHOLESTEROLEMIA; METAANALYSIS;
D O I
10.1007/s13760-023-02316-9
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:325 / 327
页数:3
相关论文
共 50 条
[41]   Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort [J].
Nudelman, Kelly N. H. ;
Jackson, Trever ;
Rumbaugh, Malia ;
Eloyan, Ani ;
Abreu, Marco ;
Dage, Jeffrey L. ;
Snoddy, Casey ;
Faber, Kelley M. ;
Foroud, Tatiana ;
Hammers, Dustin B. ;
Taurone, Alexander ;
Thangarajah, Maryanne ;
Aisen, Paul ;
Beckett, Laurel ;
Kramer, Joel ;
Koeppe, Robert ;
Kukull, Walter A. ;
Murray, Melissa E. ;
Toga, Arthur W. ;
Vemuri, Prashanthi ;
Atri, Alireza ;
Day, Gregory S. ;
Duara, Ranjan ;
Graff-Radford, Neill R. ;
Honig, Lawrence S. ;
Jones, David T. ;
Masdeu, Joseph C. ;
Mendez, Mario ;
Musiek, Erik ;
Onyike, Chiadi U. ;
Riddle, Meghan ;
Rogalski, Emily ;
Salloway, Stephen ;
Sha, Sharon J. ;
Turner, R. Scott ;
Wingo, Thomas S. ;
Wolk, David A. ;
Carrillo, Maria C. ;
Dickerson, Bradford C. ;
Rabinovici, Gil D. ;
Apostolova, Liana G. .
ALZHEIMERS & DEMENTIA, 2023, 19 :S64-S73
[42]   Cerebrospinal Fluid Biomarkers in Clinical Subtypes of Early-Onset Alzheimer's Disease [J].
Teng, Edmond ;
Yamasaki, Tritia R. ;
Tran, Michelle ;
Hsiao, Julia J. ;
Sultzer, David L. ;
Mendez, Mario F. .
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2014, 37 (5-6) :307-314
[43]   Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries [J].
Bagyinszky, Eva ;
Youn, Young Chul ;
An, Seong Soo A. ;
Kim, SangYun .
CLINICAL INTERVENTIONS IN AGING, 2016, 11 :1467-1488
[44]   Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case [J].
Piscopo, Paola ;
Talarico, Giuseppina ;
Malvezzi-Campeggi, Lorenzo ;
Crestini, Alessio ;
Rivabene, Roberto ;
Gasparini, Marina ;
Tosto, Giuseppe ;
Vanacore, Nicola ;
Lenzi, Gian Luigi ;
Bruno, Giuseppe ;
Confaloni, Annamaria .
JOURNAL OF NEUROLOGY, 2011, 258 (11) :2043-2047
[45]   Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case [J].
Paola Piscopo ;
Giuseppina Talarico ;
Lorenzo Malvezzi-Campeggi ;
Alessio Crestini ;
Roberto Rivabene ;
Marina Gasparini ;
Giuseppe Tosto ;
Nicola Vanacore ;
Gian Luigi Lenzi ;
Giuseppe Bruno ;
Annamaria Confaloni .
Journal of Neurology, 2011, 258 :2043-2047
[46]   Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation [J].
Wang, Jen-Chyong ;
Alinaghi, Somayeh ;
Tafakhori, Abbas ;
Sikora, Elizabeth ;
Azcona, Luis J. ;
Karkheiran, Siamak ;
Goate, Alison ;
Paisan-Ruiz, Coro ;
Darvish, Hossein .
NEUROBIOLOGY OF AGING, 2018, 62 :244.e15-244.e17
[47]   Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease [J].
Achouri-Rassas, Afef ;
Ben Ali, Nadia ;
Fray, Saloua ;
Fredj, Sondes Hadj ;
Kechaou, Meriem ;
Zakraoui, Nouria Oudiaa ;
Cherif, Aroua ;
Chabbi, Slim ;
Anane, Nadia ;
Messaoud, Taieb ;
Gouider, Riadh ;
Belal, Samir .
NEUROBIOLOGY OF AGING, 2015, 36 (10) :2904.e9-2904.e11
[48]   Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer's Disease [J].
Ma, Limin ;
Wang, Fengyu ;
Chen, Shuai ;
Wang, Shenghui ;
Wang, Zhenzhen ;
Xia, Mingrong ;
Li, Yongli ;
Ma, Huimin ;
Shang, Junkui ;
Zhang, Jiewen .
NEUROMOLECULAR MEDICINE, 2024, 26 (01)
[49]   A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease [J].
Zhan, Yihong ;
Zheng, Honghua ;
Wang, Chen ;
Rong, Zhouyi ;
Xiao, Naian ;
Ma, Qilin ;
Zhang, Yun-wu .
NEUROBIOLOGY OF AGING, 2017, 50 :168.e1-168.e4
[50]   White matter hyperintensities are higher among early-onset Alzheimer's disease participants than their cognitively normal and early-onset nonAD peers: Longitudinal Early-onset Alzheimer's Disease Study (LEADS) [J].
Eloyan, Ani ;
Thangarajah, Maryanne ;
An, Na ;
Borowski, Bret J. ;
Reddy, Ashritha L. ;
Aisen, Paul ;
Dage, Jeffrey L. ;
Foroud, Tatiana ;
Ghetti, Bernardino ;
Griffin, Percy ;
Hammers, Dustin ;
Iaccarino, Leonardo ;
Jack, Clifford R., Jr. ;
Kirby, Kala ;
Kramer, Joel ;
Koeppe, Robert ;
Kukull, Walter A. ;
La Joie, Renaud ;
Mundada, Nidhi S. ;
Murray, Melissa E. ;
Nudelman, Kelly ;
Rumbaugh, Malia ;
Soleimani-Meigooni, David N. ;
Toga, Arthur ;
Touroutoglou, Alexandra ;
Atri, Alireza ;
Day, Gregory S. ;
Duara, Ranjan ;
Graff-Radford, Neill R. ;
Honig, Lawrence S. ;
Jones, David T. ;
Masdeu, Joseph ;
Mendez, Mario F. ;
Musiek, Erik ;
Onyike, Chiadi U. ;
Rogalski, Emily ;
Salloway, Stephen ;
Sha, Sharon ;
Turner, Raymond S. ;
Wingo, Thomas S. ;
Wolk, David A. ;
Womack, Kyle ;
Beckett, Laurel ;
Gao, Sujuan ;
Carrillo, Maria C. ;
Rabinovici, Gil ;
Apostolova, Liana G. ;
Dickerson, Brad ;
Vemuri, Prashanthi .
ALZHEIMERS & DEMENTIA, 2023, 19 :S89-S97