Mutation analysis of LRP10 in Japanese patients with familial Parkinson's disease, progressive supranuclear palsy, and frontotemporal dementia

Kensuke Daida, Kenya Nishioka, Yuanzhe Li, Hiroyo Yoshino, Akio Kikuchi, Takafumi Hasegawa, Manabu Funayama, Nobutaka Hattori

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)235.e11-235.e16
JournalNeurobiology of Aging
Volume84
DOIs
Publication statusPublished - 2019 Dec
Externally publishedYes

Keywords

  • Genetics
  • LRP10
  • Missense mutation
  • Parkinson's disease

ASJC Scopus subject areas

  • Neuroscience(all)
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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