Abstract
Recently, the LRP10 gene has been associated with Parkinson’s disease (PD), Parkinson’s disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymous variants in patients and control subjects and a rare variant p.L622F in a PD case. These results suggest that LRP10 mutations are not a frequent cause of PD and DLB in Southern Italy.
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M. Gagliardi, A. Quattrone, G. Annesi: study concept and design
M. Morelli, G. Nicoletti, M. D’Amelio: acquisition of data
M. Gagliardi, R. Procopio, G. Annesi: analysis and interpretation
M. Gagliardi, R. Procopio, A. Quattrone, G. Annesi: critical revision of the manuscript for important intellectual content
M. Gagliardi, A. Quattrone, G. Annesi: study supervision
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Highlights
• Recently, Quadri and colleagues found a heterozygous LRP10 missense mutation (c.1807G>A, p.G603R) in a large Italian family with 13 members affected by dominantly inherited Parkinson’s disease and 1 affected by dementia with Lewy bodies.
• We decided to evaluate the presence of LRP10 mutations in a cohort of 168 familial patients with clinically diagnosed PD and 28 patients with DLB from Southern Italy.
• We found only 2 missense and 3 synonymous variants in patient and control cohorts, and a rare missense variant (p.L622F) in a 78-years old man, of uncertain significance.
• Other studies are needed to clarify the role of the LRP10 gene in the pathogenesis of Parkinson’s disease and dementia with Lewy bodies.
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Gagliardi, M., Procopio, R., Nicoletti, G. et al. Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy. Neurol Sci 42, 305–308 (2021). https://doi.org/10.1007/s10072-020-04747-1
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DOI: https://doi.org/10.1007/s10072-020-04747-1