Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Department of Neuroscience and Rehabilitation, Azienda Ospedaliera-Universitaria S. Anna, Fer-rara, Italy.
Parkinsonism Relat Disord. 2021 Nov;92:72-75. doi: 10.1016/j.parkreldis.2021.10.020. Epub 2021 Oct 24.
We report on a patient with Parkinson's disease and dementia who underwent DBS with excellent response in motor features; the genotype is heterozygous for a novel LRP10 variant in trans with a GBA variant. He had a more severe phenotype compared to the father who only carries the LRP10 variant.
我们报告了一例帕金森病伴痴呆患者，行 DBS 治疗后运动症状获得极佳改善；该患者为 LRP10 杂合变异与 GBA 变异的复合杂合子。与仅携带 LRP10 变异的父亲相比，他具有更严重的表型。
