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  • Title: Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia.
    Author: Vergouw LJM, Geut H, Breedveld G, Kuipers DJS, Quadri M, Netherlands Brain Bank, Rozemuller AJM, van Swieten JC, de Jong FJ, van de Berg WDJ, Bonifati V.
    Journal: J Alzheimers Dis; 2020; 76(3):1161-1170. PubMed ID: 32597809.
    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 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.
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