scholarly journals Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP

2017 ◽  
Vol 56 (2) ◽  
pp. 459-470 ◽  
Author(s):  
Eric Doran ◽  
David Keator ◽  
Elizabeth Head ◽  
Michael J. Phelan ◽  
Ron Kim ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy

scholarly journals Polymorphisms inHSD17B1: Early Onset and Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Joseph H. Lee ◽  
Susan Gurney ◽  
Deborah Pang ◽  
Alexis Temkin ◽  
Naeun Park ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Age At Onset ◽  
Nucleotide Polymorphisms ◽  
Risk Alleles ◽  
Increased Risk ◽  
Estrogen Activity ◽  
Intron 4

Background/Aims. Genetic variants that affect estrogen activity may influence the risk of Alzheimer's disease (AD). In women with Down syndrome, we examined the relation of polymorphisms in hydroxysteroid-17beta-dehydrogenase (HSD17B1) to age at onset and risk of AD.HSD17B1encodes the enzyme 17β-hydroxysteroid dehydrogenase (HSD1), which catalyzes the conversion of estrone to estradiol.Methods. Two hundred and thirty-eight women with DS, nondemented at baseline, 31–78 years of age, were followed at 14–18-month intervals for 4.5 years. Women were genotyped for 5 haplotype-tagging single-nucleotide polymorphisms (SNPs) in theHSD17B1gene region, and their association with incident AD was examined.Results. Age at onset was earlier, and risk of AD was elevated from two- to threefold among women homozygous for the minor allele at 3 SNPs in intron 4 (rs676387), exon 6 (rs605059), and exon 4 inCOASY(rs598126). Carriers of the haplotype TCC, based on the risk alleles for these three SNPs, had an almost twofold increased risk of developing AD (hazard ratio = 1.8, 95% CI, 1.1–3.1).Conclusion. These findings support experimental and clinical studies of the neuroprotective role of estrogen.

scholarly journals The role of calbindin‐D28k in a mouse model of Down syndrome‐related Alzheimer's disease

2020 ◽  
Vol 16 (S2) ◽  
Author(s):  
Eric D. Hamlett ◽  
Steven L. Carroll ◽  
Ann‐Charlotte Granholm
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Mouse Model ◽  
Calbindin D28k

scholarly journals Alzheimer's Disease and Vascular Deficiency: Lessons from Imaging Studies and Down Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Arlene Reed-Cossairt ◽  
Xiongwei Zhu ◽  
Hyoung-Gon Lee ◽  
Charles Reed ◽  
George Perry ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Down Syndrome ◽  
Vascular Function ◽  
Jugular Vein ◽  
Gene Dosage ◽  
White Matter Lesions ◽  
Imaging Studies

Down syndrome (DS) individuals are at high risk for developing Alzheimer's disease (AD) and consequently provide a unique opportunity to examine the factors leading to the onset of AD. This paper focuses on the neglected vascular parallels between AD and DS that can readily be examined in DS. Several recent AD studies provide evidence that internal jugular vein (IJV) reflux may result in white matter lesions and a 30% decrease in cerebrospinal fluid (CSF) clearance of amyloid-β. At the same time, studies analyzing the synthesis of amyloid-βin DS showed greater than expected amounts of Aβthan would be predicted by the increase in gene dosage, perhaps due to slower clearance. These studies are discussed along with the possibility that the venous and CSF dysfunction found in AD patients may be present early in life in persons with DS, leaving them particularly vulnerable to early onset AD. Studying IJV function in DS provides an opportunity to understand the role of vascular function in the initiation of AD.

Role of Tau Protein in Neuronal Damage in Alzheimer's Disease and Down Syndrome

2012 ◽  
Vol 43 (8) ◽  
pp. 645-654 ◽  
Author(s):  
Ana M. Cárdenas ◽  
Alvaro O. Ardiles ◽  
Natalia Barraza ◽  
Ximena Baéz-Matus ◽  
Pablo Caviedes
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Tau Protein ◽  
Neuronal Damage

scholarly journals Down syndrome: the prevalence of Alzheimer’s disease and the role of thyroid hormone

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
GISELE GIANNOCCO ◽  
ANDRÉA VANCETTO MAGLIONE ◽  
JÉSSICA SALLES HENRIQUE ◽  
JANAINA SENA DE SOUZA
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Thyroid Hormone
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