Literature DB >> 32097768

Genetic architecture of neurodegenerative dementias.

Jordi Clarimon1, Sonia Moreno-Grau2, Laura Cervera-Carles3, Oriol Dols-Icardo3, Pascual Sánchez-Juan4, Agustín Ruiz2.   

Abstract

Molecular genetics has been an invaluable tool to help understand the molecular basis of neurodegenerative dementias. In this review, we provide an overview of the genetic architecture underlying some of the most prevalent causes of dementia, including Alzheimer's dementia, frontotemporal lobar degeneration, Lewy body dementia, and prion diseases. We also discuss the complexity of the human genome and how the novel technologies have revolutionized and accelerated the way we screen the variety of our DNA. Finally, we also provide some examples about how this genetic knowledge is being transferred into the clinic through personalized medicine. This article is part of the special issue entitled 'The Quest for Disease-Modifying Therapies for Neurodegenerative Disorders'.
Copyright © 2020 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Alzheimer's disease; Frontotemporal dementia; Genetics; Lewy body; Prion; Review

Mesh:

Year:  2020        PMID: 32097768     DOI: 10.1016/j.neuropharm.2020.108014

Source DB:  PubMed          Journal:  Neuropharmacology        ISSN: 0028-3908            Impact factor:   5.250


  2 in total

1.  Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer's Disease and Lewy Body Dementia.

Authors:  Ilaria Palmieri; Tino Emanuele Poloni; Valentina Medici; Susanna Zucca; Annalisa Davin; Orietta Pansarasa; Mauro Ceroni; Livio Tronconi; Antonio Guaita; Stella Gagliardi; Cristina Cereda
Journal:  Biomedicines       Date:  2022-07-13

2.  Somatic TARDBP variants as a cause of semantic dementia.

Authors:  Jeroen van Rooij; Merel O Mol; Shamiram Melhem; Pelle van der Wal; Pascal Arp; Francesca Paron; Laura Donker Kaat; Harro Seelaar; Suzanne S M Miedema; Takuya Oshima; Bart J L Eggen; André Uitterlinden; Joyce van Meurs; Ronald E van Kesteren; August B Smit; Emanuele Buratti; John C van Swieten
Journal:  Brain       Date:  2020-12-01       Impact factor: 13.501

  2 in total

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