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  • Orme, T.University College London (author)

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-01-29
  • Springer Science and Business Media LLC,2020

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/290973
  • https://gup.ub.gu.se/publication/290973URI
  • https://doi.org/10.1186/s40478-020-0879-zDOI
  • https://lup.lub.lu.se/record/da230154-7cb4-4b26-b08c-0735c5c641caURI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative diseases. We analyzed variants in 60 genes implicated in DLB, Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and atypical parkinsonian or dementia disorders, in order to determine their frequency in DLB. We focused on variants that have previously been reported as pathogenic, and also describe variants reported as pathogenic which remain of unknown clinical significance, as well as variants associated with strong risk. Rare missense variants of unknown significance were found in APP, CHCHD2, DCTN1, GRN, MAPT, NOTCH3, SQSTM1, TBK1 and TIA1. Additionally, we identified a pathogenic GRN p.Arg493* mutation, potentially adding to the diversity of phenotypes associated with this mutation. The rarity of previously reported pathogenic mutations in this cohort suggests that the genetic overlap of other neurodegenerative diseases with DLB is not substantial. Since it is now clear that genetics plays a role in DLB, these data suggest that other genetic loci play a role in this disease.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Hernandez, D. (author)
  • Ross, O. A. (author)
  • Kun-Rodrigues, C. (author)
  • Darwent, L. (author)
  • Shepherd, C. E. (author)
  • Parkkinen, L. (author)
  • Ansorge, O. (author)
  • Clark, L. (author)
  • Honig, L. S. (author)
  • Marder, K. (author)
  • Lemstra, A. (author)
  • Rogaeva, E. (author)
  • George-Hyslop, P. S. (author)
  • Londos, ElisabetLund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups(Swepub:lu)pski-elo (author)
  • Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xzethe (author)
  • Morgan, K. (author)
  • Troakes, C. (author)
  • Al-Sarraj, S. (author)
  • Lashley, T. (author)
  • Holton, J. (author)
  • Compta, Y. (author)
  • Van Deerlin, V. (author)
  • Trojanowski, J. Q. (author)
  • Serrano, G. E. (author)
  • Beach, T. G. (author)
  • Lesage, S. (author)
  • Galasko, D. (author)
  • Masliah, E. (author)
  • Santana, I. (author)
  • Pastor, P. (author)
  • Tienari, P. J. (author)
  • Myllykangas, L. (author)
  • Oinas, M. (author)
  • Revesz, T. (author)
  • Lees, A. (author)
  • Boeve, B. F. (author)
  • Petersen, R. C. (author)
  • Ferman, T. J. (author)
  • Escott-Price, V. (author)
  • Graff-Radford, N. (author)
  • Cairns, N. J. (author)
  • Morris, J. C. (author)
  • Pickering-Brown, S. (author)
  • Mann, D. (author)
  • Halliday, G. (author)
  • Stone, D. J. (author)
  • Dickson, D. W. (author)
  • Hardy, J. (author)
  • Singleton, A. (author)
  • Guerreiro, R. (author)
  • Bras, J.Van Andel Research Institute (author)
  • University College LondonKlinisk minnesforskning (creator_code:org_t)
  • et al.

Related titles

  • In:Acta neuropathologica communications: Springer Science and Business Media LLC8:12051-5960

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