Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia.

ABSTRACT:

Background

Rare variants in the low-density lipoprotein receptor related protein 10 gene (LRP10) have recently been implicated in the etiology of Parkinson's disease (PD) and dementia with Lewy bodies (DLB).

Objective

We searched for LRP10 variants in a new series of brain donors with dementia and Lewy pathology (LP) at autopsy, or dementia and parkinsonism without LP but with various other neurodegenerative pathologies.

Methods

Sanger sequencing of LRP10 was performed in 233 donors collected by the Netherlands Brain Bank.

Results

Rare, possibly pathogenic heterozygous LRP10 variants were present in three patients: p.Gly453Ser in a patient with mixed Alzheimer's disease (AD)/Lewy body disease (LBD), p.Arg151Cys in a DLB patient, and p.Gly326Asp in an AD patient

SUBMITTER: Vergouw LJM 

PROVIDER: S-EPMC7505004 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature