Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia

Leonie J M Vergouw, Hanneke Geut, Guido Breedveld, Demy J S Kuipers, Marialuisa Quadri, , Annemieke J M Rozemuller, John C van Swieten, Wilma D J van de Berg, Vincenzo Bonifati

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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.Gly453Serin 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 without LP. All three patients had a positive family history for dementia or PD.

CONCLUSION: Rare LRP10 variants are present in some patients with dementia and different brain pathologies including DLB, mixed AD/LBD, and AD. These findings suggest a role for LRP10 across a broad neurodegenerative spectrum.

Originele taal-2Engels
Pagina's (van-tot)1161-1170
TijdschriftJournal of Alzheimer's Disease
StatusGepubliceerd - 2020


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