@article{6a23f92365a64a8d9df969bab2cc1016,
title = "Mutation analysis of LRP10 in Japanese patients with familial Parkinson's disease, progressive supranuclear palsy, and frontotemporal dementia",
abstract = "Mutations of the gene encoding low-density lipoprotein receptor–related protein 10 (LRP10) were recently detected in patients (heterogeneous races) with autosomal dominant inheritance of familial Parkinson's disease. The patients with Parkinson's disease, Parkinson's disease with dementia, and dementia with Lewy bodies whose brain pathology indicated deposit of alpha-synuclein along with the co-occurrence of tau pathology and amyloid-beta plaques presented LRP10 mutations. LRP10 is localized in the vesicular structures and trans-Golgi network; its alteration leads to alpha-synuclein aggregation. Thus, we conducted the genetic screening of LRP10 among 187 patients with familial Parkinson's disease and 19 patients with atypical parkinsonian disorders, including frontotemporal dementia, progressive supranuclear palsy, and corticobasal syndrome. There were no putative pathogenic variants among patients with Parkinson's disease. We detected one rare variant, p.D198N, in a patient with frontotemporal dementia, without a cosegregation study. Overall, our findings showed that LRP10 variants are not causative for disease in our cohort.",
keywords = "Genetics, LRP10, Missense mutation, Parkinson's disease",
author = "Kensuke Daida and Kenya Nishioka and Yuanzhe Li and Hiroyo Yoshino and Akio Kikuchi and Takafumi Hasegawa and Manabu Funayama and Nobutaka Hattori",
note = "Funding Information: KK is funded by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan, Japan ( 23591269 , 26461319 ). This work was supported by JSPS, Japan KAKENHI Grant Numbers, 16K09678 (to KN), 16K09700 (to YL), 16K09676 (to MF), 15H04842 (to NH), and the Canada Research Chairs program (AJS). The authors are very grateful for these grants: AMED-CREST (Japanese Association of Medical Research and Development) (NH), Practical Research Project for Rare/Intractable Diseases from AMED; 15ek0109029s0202 to NH. The authors would like to thank the Genome Aggregation Database (gnomAD) and the groups that provided exome and genome variant data to this resource. A full list of contributing groups can be found at https://gnomad.broadinstitute.org/about . Funding Information: KK is funded by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan, Japan (23591269, 26461319). This work was supported by JSPS, Japan KAKENHI Grant Numbers, 16K09678 (to KN), 16K09700 (to YL), 16K09676 (to MF), 15H04842 (to NH), and the Canada Research Chairs program (AJS). The authors are very grateful for these grants: AMED-CREST (Japanese Association of Medical Research and Development) (NH), Practical Research Project for Rare/Intractable Diseases from AMED; 15ek0109029s0202 to NH. The authors would like to thank the Genome Aggregation Database (gnomAD) and the groups that provided exome and genome variant data to this resource. A full list of contributing groups can be found at https://gnomad.broadinstitute.org/about. Publisher Copyright: {\textcopyright} 2019 Elsevier Inc.",
year = "2019",
month = dec,
doi = "10.1016/j.neurobiolaging.2019.08.030",
language = "English",
volume = "84",
pages = "235.e11--235.e16",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
}