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LRP10 variants in progressive supranuclear palsy.

TitleLRP10 variants in progressive supranuclear palsy.
Publication TypeJournal Article
Year of Publication2020
AuthorsVergouw LJM, Melhem S, Kaat LDonker, Chiu WZ, Kuipers DJS, Breedveld G, Boon AJW, San Wang L-, Naj AC, Mlynarksi E, Cantwell L, Quadri M, Ross OA, Dickson DW, Schellenberg GD, van Swieten JC, Bonifati V, de Jong FJan
JournalNeurobiol Aging
Date Published2020 10
KeywordsAged, Cohort Studies, Exons, Female, Genetic Variation, Humans, LDL-Receptor Related Proteins, Male, Middle Aged, Supranuclear Palsy, Progressive, Whole Exome Sequencing

The aim of this study was to explore whether variants in LRP10, recently associated with Parkinson's disease and dementia with Lewy bodies, are observed in 2 large cohorts (discovery and validation cohort) of patients with progressive supranuclear palsy (PSP). A total of 950 patients with PSP were enrolled: 246 patients with PSP (n = 85 possible (35%), n = 128 probable (52%), n = 33 definite (13%)) in the discovery cohort and 704 patients with definite PSP in the validation cohort. Sanger sequencing of all LRP10 exons and exon-intron boundaries was performed in the discovery cohort, and whole-exome sequencing was performed in the validation cohort. Two patients from the discovery cohort and 8 patients from the validation cohort carried a rare, heterozygous, and possibly pathogenic LRP10 variant (p.Gly326Asp, p.Asp389Asn, and p.Arg158His, p.Cys220Tyr, p.Thr278Ala, p.Gly306Asp, p.Glu486Asp, p.Arg554∗, p.Arg661Cys). In conclusion, possibly pathogenic LRP10 variants occur in a small fraction of patients with PSP and may be overrepresented in these patients compared with controls. This suggests that possibly pathogenic LRP10 variants may play a role in the development of PSP.

Pubmed Link
Alternate JournalNeurobiol Aging
PubMed ID32527607
PubMed Central IDPMC8281359
Grant ListR01 AG054060 / AG / NIA NIH HHS / United States
P01 AG017586 / AG / NIA NIH HHS / United States
UH3 NS104095 / NS / NINDS NIH HHS / United States
UG3 NS104095 / NS / NINDS NIH HHS / United States
U54 NS100693 / NS / NINDS NIH HHS / United States

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