Title | LRP10 variants in progressive supranuclear palsy. |
Publication Type | Journal Article |
Year of Publication | 2020 |
Authors | Vergouw 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 |
Journal | Neurobiol Aging |
Volume | 94 |
Pagination | 311.e5-311.e10 |
Date Published | 2020 10 |
ISSN | 1558-1497 |
Keywords | Aged, Cohort Studies, Exons, Female, Genetic Variation, Humans, LDL-Receptor Related Proteins, Male, Middle Aged, Supranuclear Palsy, Progressive, Whole Exome Sequencing |
Abstract | 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. |
DOI | 10.1016/j.neurobiolaging.2020.04.016 |
Pubmed Link | https://www.ncbi.nlm.nih.gov/pubmed/32527607?dopt=Abstract |
page_expo | Internal |
Alternate Journal | Neurobiol Aging |
PubMed ID | 32527607 |
PubMed Central ID | PMC8281359 |
Grant List | R01 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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