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Title

Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain

AuthorsPerinán, María Teresa; Macías García, Daniel; Buiza-Rueda, Dolores; Guijarro-Albaladejo, Beatriz; Jesús Maestre, Silvia; Adarmes Gómez, A. D.; Escuela, Rocío; Vigo-Ortega, Rosario; Gómez-Garre, Pilar; Mir, Pablo CSIC ORCID
KeywordsParkinson’s disease
LRP10
Genetics
Issue DateSep-2020
PublisherElsevier
CitationNeurobiology of Aging 93: 142.e1-142.e3 (2020)
AbstractLipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia.
Publisher version (URL)http://doi.org/10.1016/j.neurobiolaging.2020.04.007
URIhttp://hdl.handle.net/10261/236849
Identifiersdoi: 10.1016/j.neurobiolaging.2020.04.007
issn: 0197-4580
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