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Related Experiment Video

Updated: Dec 18, 2025

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LRP10 variants in progressive supranuclear palsy.

Leonie J M Vergouw1, Shamiram Melhem1, Laura Donker Kaat2

  • 1Department of Neurology and Alzheimer Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Neurobiology of Aging
|June 13, 2020
PubMed
Summary

Rare LRP10 gene variants, linked to other neurodegenerative diseases, were found in a small number of progressive supranuclear palsy (PSP) patients. These findings suggest LRP10 variants may contribute to PSP development.

Keywords:
GeneticsLRP10Progressive supranuclear palsyRare variants

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Area of Science:

  • Neurogenetics
  • Neurology
  • Molecular Biology

Background:

  • Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease with limited understanding of its genetic underpinnings.
  • The LRP10 gene has been recently implicated in Parkinson's disease and dementia with Lewy bodies.

Purpose of the Study:

  • To investigate the presence and potential role of LRP10 gene variants in patients diagnosed with progressive supranuclear palsy (PSP).

Main Methods:

  • Sanger sequencing and whole-exome sequencing were employed to analyze LRP10 gene variants.
  • Two large cohorts, a discovery cohort (246 PSP patients) and a validation cohort (704 definite PSP patients), were utilized.

Main Results:

  • Possibly pathogenic LRP10 variants were identified in a small subset of PSP patients across both cohorts.
  • Specific rare, heterozygous variants including p.Gly326Asp and p.Arg158His were noted in affected individuals.

Conclusions:

  • Possibly pathogenic LRP10 variants are present in a fraction of PSP patients and may be overrepresented compared to controls.
  • These findings indicate that LRP10 variants could be a contributing factor in the pathogenesis of progressive supranuclear palsy.