The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1

Arisa Hayashida, Yuanzhe Li, Hiroyo Yoshino, Kensuke Daida, Aya Ikeda, Kotaro Ogaki, Atsuhito Fuse, Akio Mori, Masashi Takanashi, Toshiki Nakahara, Asako Yoritaka, Yuji Tomizawa, Yoshiaki Furukawa, Kazuaki Kanai, Yoshiaki Nakayama, Hidefumi Ito, Mieko Ogino, Yuko Hattori, Tatsuya Hattori, Yuta IchinoseYoshihisa Takiyama, Tsukasa Saito, Takashi Kimura, Hitoshi Aizawa, Hiroshi Shoji, Yuri Mizuno, Takuya Matsushita, Mitsuto Sato, Yoshiki Sekijima, Masayo Morita, Akio Iwasaki, Hirofumi Kusaka, Mikiko Tada, Fumiaki Tanaka, Yusuke Sakiyama, Takeshi Fujimoto, Yuko Nagara, Kenichi Kashihara, Hiroyuki Todo, Kouichi Nakao, Kazuhito Tsuruta, Masaaki Yoshikawa, Hideo Hara, Hiroaki Yokote, Nagako Murase, Kiyotaka Nakamagoe, Akira Tamaoka, Motonori Takamiya, Nobutoshi Morimoto, Kazuya Nokura, Tetsuharu Kako, Manabu Funayama, Kenya Nishioka, Nobutaka Hattori

Research output: Contribution to journalArticlepeer-review

Abstract

To investigate the prevalence and genotype-phenotype correlations of phosphatase and tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) patients, we analyzed 1700 patients (842 familial PD and 858 sporadic PD patients from Japanese origin). We screened the entire exon and exon-intron boundaries of PINK1 using Sanger sequencing and target sequencing by Ion torrent system. We identified 30 patients with heterozygous variants, 3 with homozygous variants, and 3 with digenic variants of PINK1-PRKN. Patients with homozygous variants presented a significantly younger age at onset than those with heterozygous variants. The allele frequency of heterozygous variants in patients with age at onset at 50 years and younger with familial PD and sporadic PD showed no differences. [123I]meta-iodobenzylguanidine (MIBG) myocardial scintigraphy indicated that half of patients harboring PINK1 heterozygous variants showed a decreased heart to mediastinum ratio (12/23). Our findings emphasize the importance of PINK1 variants for the onset of PD in patients with age at onset at 50 years and younger and the broad spectrum of clinical symptoms in patients with PINK1 variants.

Original languageEnglish
Pages (from-to)146.e1-146.e13
JournalNeurobiology of Aging
Volume97
DOIs
Publication statusPublished - Jan 2021

All Science Journal Classification (ASJC) codes

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

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