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
来源：
ACTA NEUROLOGICA BELGICA | 2024年 / 124卷 / 01期
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
  • [1] Early-onset Alzheimer’s disease due to novel LDLR gene mutation
    Romana Perković
    Manuela Frančić
    Ratimir Petrović
    David Ozretić
    Stipe Škara
    Ivan Pećin
    Fran Borovečki
    [J]. Acta Neurologica Belgica, 2024, 124 : 325 - 327
  • [2] Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease
    Vo Van Giau
    Senanarong, Vorapun
    Bagyinszky, Eva
    Limwongse, Chanin
    An, Seong Soo A.
    Kim, SangYun
    [J]. NEUROPSYCHIATRIC DISEASE AND TREATMENT, 2018, 14 : 3015 - 3023
  • [3] Gene mutation analysis of 3 families with early-onset Alzheimer's disease
    杨志华
    [J]. China Medical Abstracts (Internal Medicine), 2016, (04) : 234 - 234
  • [4] Mutation screening of the tau gene in patients with early-onset Alzheimer's disease
    Roks, G
    Dermaut, B
    Heutink, P
    Julliams, A
    Backhovens, H
    Van de Broeck, M
    Serneels, S
    Hofman, A
    Van Broeckhoven, C
    van Duijn, CM
    Cruts, M
    [J]. NEUROSCIENCE LETTERS, 1999, 277 (02) : 137 - 139
  • [5] Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene
    Golan, M. P.
    Styczynska, M.
    Jozwiak, K.
    Walecki, J.
    Maruszak, A.
    Pniewski, J.
    Lugiewicz, R.
    Filipek, S.
    Zekanowski, C.
    Barcikowska, M.
    [J]. EXPERIMENTAL NEUROLOGY, 2007, 208 (02) : 264 - 268
  • [6] Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation
    Goldman, JS
    Reed, B
    Gearhart, R
    Kramer, JH
    Miller, BL
    [J]. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, 2002, 17 (07) : 649 - 651
  • [7] A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease
    Lleó, A
    Blesa, R
    Gendre, J
    Castellví, M
    Pastor, P
    Queralt, R
    Oliva, R
    [J]. NEUROLOGY, 2001, 57 (10) : 1926 - 1928
  • [8] Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene
    Smith, MJ
    Gardner, RJM
    Knight, MA
    Forrest, SM
    Beyreuther, K
    Storey, E
    McLean, CA
    Cotton, RGH
    Cappal, R
    Masters, CL
    [J]. NEUROREPORT, 1999, 10 (03) : 503 - 507
  • [9] Phenotype and functional consequences of a novel mutation in the presenilin 1 gene in a family with early-onset Alzheimer's disease
    Lleó, A
    Queralt, R
    Ezquerra, M
    Gelpí, JL
    Castellví, M
    Acarín, N
    Pasarin, L
    Blesa, R
    Oliva, R
    [J]. NEUROLOGY, 2001, 56 (08) : A114 - A114
  • [10] Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation
    Ringman, John M.
    Gylys, Karen H.
    Medina, Luis D.
    Fox, Michelle
    Kepe, Vladimir
    Flores, Deborah L.
    Apostolova, Liana G.
    Barrio, Jorge R.
    Small, Gary
    Silverman, Daniel H.
    Siu, Erin
    Cederbaum, Stephen
    Hecimovic, Silva
    Malnar, Martina
    Chakraverty, Suma
    Goate, Alison M.
    Bird, Thomas D.
    Leverenz, James B.
    [J]. NEUROSCIENCE LETTERS, 2011, 487 (03) : 287 - 292
12345