Literature DB >> 31753140

Down syndrome.

Michael S Rafii1, Alexander M Kleschevnikov2, Mariko Sawa2, William C Mobley3.   

Abstract

Down syndrome (DS; Trisomy 21) is the most common chromosomal disorder in humans. It has numerous associated neurologic phenotypes including intellectual disability, sleep apnea, seizures, behavioral problems, and dementia. With improved access to medical care, people with DS are living longer than ever before. As more individuals with DS reach old age, the necessity for further life span research is essential and cannot be overstated. There is currently a scarcity of information on common medical conditions encountered as individuals with DS progress into adulthood and old age. Conflicting information and uncertainty about the relative risk of dementia for adults with DS is a source of distress for the DS community that creates a major obstacle to proper evaluation and treatment. In this chapter, we discuss the salient neurologic phenotypes of DS, including Alzheimer's disease (AD), and current understanding of their biologic bases and management.
Copyright © 2019 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Aging; Alzheimer's disease; Dementia; Down syndrome; Trisomy 21

Mesh:

Year:  2019        PMID: 31753140     DOI: 10.1016/B978-0-12-804766-8.00017-0

Source DB:  PubMed          Journal:  Handb Clin Neurol        ISSN: 0072-9752


  9 in total

1.  Accelerometer-based estimation of oxygen uptake in adults with Down syndrome: vector magnitude vs. vertical axis.

Authors:  B K Ballenger; E E Schultz; M Driskill; S Richardson; Q Du; R W Motl; S Agiovlasitis
Journal:  J Intellect Disabil Res       Date:  2022-02-17

2.  Comparing the Tongue and Lip Strength and Endurance of Children with Down Syndrome with Their Typical Peers Using IOPI.

Authors:  Hamid Reza Farpour; Seyed Ali Moosavi; Zhila Mohammadian; Sima Farpour
Journal:  Dysphagia       Date:  2021-08-25       Impact factor: 2.733

3.  Impact of increased APP gene dose in Down syndrome and the Dp16 mouse model.

Authors:  Mariko Sawa; Cassia Overk; Ann Becker; Dominique Derse; Ricardo Albay; Kim Weldy; Ahmad Salehi; Thomas G Beach; Eric Doran; Elizabeth Head; Y Eugene Yu; William C Mobley
Journal:  Alzheimers Dement       Date:  2021-11-10       Impact factor: 16.655

4.  Silencing Trisomy 21 with XIST in Neural Stem Cells Promotes Neuronal Differentiation.

Authors:  Jan Tomasz Czermiński; Jeanne Bentley Lawrence
Journal:  Dev Cell       Date:  2020-01-23       Impact factor: 12.270

5.  Physical activity, memory function, and hippocampal volume in adults with Down syndrome.

Authors:  Jamie C Peven; Benjamin L Handen; Charles M Laymon; Victoria Fleming; Brianna Piro-Gambetti; Bradley T Christian; William Klunk; Ann D Cohen; Ozioma Okonkwo; Sigan L Hartley
Journal:  Front Integr Neurosci       Date:  2022-09-13

Review 6.  Enhanced GIRK2 channel signaling in Down syndrome: A feasible role in the development of abnormal nascent neural circuits.

Authors:  Alexander M Kleschevnikov
Journal:  Front Genet       Date:  2022-09-12       Impact factor: 4.772

7.  Overproduction of hydrogen sulfide, generated by cystathionine β-synthase, disrupts brain wave patterns and contributes to neurobehavioral dysfunction in a rat model of down syndrome.

Authors:  Theodora Panagaki; Laura Lozano-Montes; Lucia Janickova; Karim Zuhra; Marcell P Szabo; Tomas Majtan; Gregor Rainer; Damien Maréchal; Yann Herault; Csaba Szabo
Journal:  Redox Biol       Date:  2022-01-13       Impact factor: 10.787

8.  Targeting increased levels of APP in Down syndrome: Posiphen-mediated reductions in APP and its products reverse endosomal phenotypes in the Ts65Dn mouse model.

Authors:  Xu-Qiao Chen; Ahmad Salehi; Matthew L Pearn; Cassia Overk; Phuong D Nguyen; Alexander M Kleschevnikov; Maria Maccecchini; William C Mobley
Journal:  Alzheimers Dement       Date:  2020-09-25       Impact factor: 21.566

9.  Normal levels of KIF5 but reduced KLC1 levels in both Alzheimer disease and Alzheimer disease in Down syndrome: evidence suggesting defects in anterograde transport.

Authors:  Xu-Qiao Chen; Utpal Das; Gooho Park; William C Mobley
Journal:  Alzheimers Res Ther       Date:  2021-03-10       Impact factor: 6.982

  9 in total

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