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

被引:2
|
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
  • [11] Splicing mutation of Presenilin-1 gene for early-onset familial Alzheimer's disease
    Sato, S
    Kamino, K
    Miki, T
    Doi, A
    Ii, K
    St George-Hyslop, PH
    Ogihara, T
    Sakaki, Y
    [J]. HUMAN MUTATION, 1998, : S91 - S94
  • [12] A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease
    La Bella, V
    Liguori, M
    Cittadella, R
    Settipani, N
    Piccoli, T
    Manna, I
    Quattrone, A
    Piccoli, F
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2004, 11 (08) : 521 - 524
  • [13] A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features
    Nygaard, Haakon B.
    Lippa, Carol F.
    Mehdi, Djekidel
    Baehring, Joachim M.
    [J]. AMERICAN JOURNAL OF ALZHEIMERS DISEASE AND OTHER DEMENTIAS, 2014, 29 (05): : 433 - 435
  • [14] A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease
    Forsell, C
    Froelich, S
    Axelman, K
    Vestling, M
    Cowburn, RF
    Lilius, L
    Johnston, JA
    Engvall, B
    Johansson, K
    Dahlkild, A
    Ingelson, M
    StGeorgeHyslop, PH
    Lannfelt, L
    [J]. NEUROSCIENCE LETTERS, 1997, 234 (01) : 3 - 6
  • [15] Presenilin enhancer-2 gene: Identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease
    Andreoli, Virginia
    Trecroci, Francesca
    La Russa, Antonella
    Cittadella, Rita
    Liguori, Maria
    Spadafora, Patrizia
    Caracciolo, Manuela
    Di Palma, Gemma
    Colica, Carmela
    Gambardella, Antonio
    Quattrone, Aldo
    [J]. ALZHEIMERS & DEMENTIA, 2011, 7 (06) : 574 - 578
  • [16] Early-onset familial Alzheimer's disease: Mutation frequency in 31 families
    Janssen, JC
    Fox, NC
    Harvey, RJ
    Houlden, H
    Rossor, MN
    Beck, JA
    Campbell, TA
    Dickinson, A
    Collinge, J
    [J]. NEUROBIOLOGY OF AGING, 2002, 23 (01) : S311 - S311
  • [17] Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation
    Lindquist, Suzanne Granhoj
    Nielsen, Jorgen Erik
    Stokholm, Jette
    Schwartz, Marianne
    Batbayli, Mustafa
    Ballegaard, Martin
    Erdal, Jesper
    Krabbe, Katja
    Waldemar, Gunhild
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2008, 268 (1-2) : 124 - 130
  • [18] A novel point mutation in parkin gene was identified in an early-onset case of Parkinson's disease
    Wang, Tao
    Liang, Zhi-hou
    Sun, Sheng-gang
    Cao, Xue-bing
    Peng, Hai
    Cao, Fei
    Liu, Hongjin
    Tong, E-tang
    [J]. Chinese Journal of Medical Genetics, 2003, 20 (02) : 111 - 113
  • [19] Quality of life in early-onset Alzheimer’s disease due to a PSEN1-E280A mutation
    Daniel Vasquez
    Melissa Sierra Castrillón
    Manuela Gomez Vega
    Clara Gomez Henck
    David Aguillon
    Elkin Garcia-Cifuentes
    Alberto Jaramillo-Jimenez
    Juan Esteban Velez
    Lucia Madrigal
    Francisco Lopera
    [J]. Neurological Sciences, 2021, 42 : 4637 - 4645
  • [20] Quality of life in early-onset Alzheimer's disease due to a PSEN1-E280A mutation
    Vasquez, Daniel
    Castrillon, Melissa Sierra
    Vega, Manuela Gomez
    Henck, Clara Gomez
    Aguillon, David
    Garcia-Cifuentes, Elkin
    Jaramillo-Jimenez, Alberto
    Velez, Juan Esteban
    Madrigal, Lucia
    Lopera, Francisco
    [J]. NEUROLOGICAL SCIENCES, 2021, 42 (11) : 4637 - 4645