CorrespondenceLRP10 in α-synucleinopathies
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LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
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Cited by (10)
Screening of LRP10 mutations in Parkinson's disease patients from Italy
2021, Parkinsonism and Related DisordersCitation Excerpt :A123I-FP-CIT-DAT-scan imaging of the same year revealed asymmetric markedly reduced striatal tracer binding in putamen and caudate, more pronounced on the left. The variant has been already detected in one control [10] and one definite Progressive supranuclear palsy (PSP) patient [13] in previous works. However, patient 3 did not show cardinal features of PSP, including vertical supranuclear gaze palsy, repeated unprovoked falls, spastic dysarthria, cervical dystonia, cognitive impairment, and levodopa resistance, thus excluding a diagnosis of PSP.
Role of LRP10 in Parkinson's disease in a Taiwanese cohort
2021, Parkinsonism and Related DisordersCitation Excerpt :According to the population frequency reported in GnomAD, c.1424+5delG has only been found in East Asian populations [22]. This variant has not been reported in several European cohorts with LRP10 and PD or other α-synucleinopathies [23–28]. Notably, no such variant was found in the latest cohorts from China and Japan [20,21,29,30].
LRP10 variants in progressive supranuclear palsy
2020, Neurobiology of AgingCitation Excerpt :In addition, the p.Gly306Asp variant has been identified previously in 2 of 2835 patients with PD and 1 of 5343 controls (Kia et al., 2018), the p.Gly326Asp variant in 1 of 264 patients with multiple system atrophy and in no controls (Pihlström et al., 2018), and the p.Glu486Asp variant in 3 of 2835 patients with PD and 1 of 111 patients with dementia with Lewy bodies compared with none in 5343 and 233 controls, respectively (Kia et al., 2018). The p.Arg158His, p.Arg554∗, and p.Arg661Cys variants have previously been identified in single controls (Kia et al., 2018; Guerreiro et al., 2018; Pihlström et al., 2018; Supplementary Table S5). Both patients from the discovery cohort displayed uncommon PSP clinical features.
Genetics of Parkinson's disease: An introspection of its journey towards precision medicine
2020, Neurobiology of DiseaseMutation analysis of LRP10 in Japanese patients with familial Parkinson's disease, progressive supranuclear palsy, and frontotemporal dementia
2019, Neurobiology of AgingCitation Excerpt :Their gene-based collapsing analysis did not identify any association between rare variants and PD (Kia et al., 2018). In addition, Pihlstrom et al. assessed potentially pathogenic variants in exome data, in 264 patients with MSA and 462 controls (Pihlstrom et al., 2018). The study did not provide evidence of pathogenicity of LRP10 variants in patients with MSA.
Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease
2023, Neurological Sciences