Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Neurobiol Aging. 2020 Sep;93:142.e1-142.e3. doi: 10.1016/j.neurobiolaging.2020.04.007. Epub 2020 Apr 15.
Lipoprotein 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.
载脂蛋白受体相关蛋白 10（LRP10）被认为是常染色体显性帕金森病（PD）的一个新的致病基因，c.919T>A（p.Tyr307Asn）变异被认为可能与家族性 PD 和伴有痴呆的 PD 的发生有关。我们在西班牙南部的 679 名 PD 患者中筛查了 p.Tyr307Asn 变异，其中 129 名是家族性病例，1217 名是无血缘关系的健康对照。共发现 3 名 LRP10 p.Tyr307Asn 变异携带者：1 名 PD 患者和 2 名健康对照。结合 PD 家族史的缺失，这一发现可能表明该变异具有低外显率，并且在我们的队列中 p.Tyr307Asn 对 PD 的作用有限。然而，LRP10 p.Tyr307Asn 携带者的阿尔茨海默病家族史提供了与痴呆可能相关的证据。
