2020
Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia
Publication
Publication
Journal of Alzheimer's Disease , Volume 76 - Issue 3 p. 1161- 1170
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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| doi.org/10.3233/JAD-200318, hdl.handle.net/1765/129612 | |
| Journal of Alzheimer's Disease | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Vergouw, L., Geut, H. (Hanneke), Breedveld, G., Kuipers, D., Quadri, M., Rozemuller, A., … Bonifati, V. (2020). Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia. Journal of Alzheimer's Disease, 76(3), 1161–1170. doi:10.3233/JAD-200318 |
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