論文

査読有り 国際誌
2020年12月

Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's disease

Parkinsonism & Related Disorders
  • Kenya Nishioka
  • Yoshio Hashizume
  • Masashi Takanashi
  • Kensuke Daida
  • Yuanzhe Li
  • Hiroyo Yoshino
  • Nicola Tambasco
  • Paolo Prontera
  • Yuko Hattori
  • Akihiro Ueda
  • Hirohisa Watanabe
  • Nobutaka Hattori
  • 全て表示

81
開始ページ
183
終了ページ
187
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.parkreldis.2020.11.001
出版者・発行元
Elsevier BV

The present report documents a patient harboring an alpha-synuclein p.A53T variant from a family presenting with autosomal dominant inheritance, including four patients clinically diagnosed with Parkinson's disease (PD) and two with dementia. The alpha-synuclein p.A53T variant is linked to young- or middle-aged onset parkinsonism and cognitive decline. Our patient had a different haplotype from that of a patient with a p.A53T variant from an Italian family. The proband presented at 42 years of age with progressive parkinsonism and good response to levodopa in the early stages of the disease. At 46 years of age, he developed delusions and cognitive decline. Brain magnetic resonance imaging showed bilateral atrophic changes in the hippocampus and temporal lobes. He died of pneumonia at the age of 52 years. Neuropathological examination revealed severe neuronal loss in the substantia nigra, locus coeruleus, and dorsal nucleus of the vagus nerve, as well as widespread Lewy pathology including Lewy bodies and neurites, corresponding to Braak stage 6, and diffuse neocortical-type PD. There was mild appearance of tau pathology and glial cytoplasmic inclusion, in the absence of TDP-43 pathology. Alpha-synuclein p.A53T characteristically cause the Lewy body pathology and the symptoms, that resembled those of the reported patients with p.A53T.

リンク情報
DOI
https://doi.org/10.1016/j.parkreldis.2020.11.001
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/33171430
ID情報
  • DOI : 10.1016/j.parkreldis.2020.11.001
  • ISSN : 1353-8020
  • PubMed ID : 33171430

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