Mutation in the α-synuclein gene and sporadic Parkinson's disease, Alzheimer's disease, and dementia with Lewy bodies

Susumu Higuchi, Hiroyuki Arai, Sachio Matsushita, Toshifumi Matsui, Teiko Kimpara, Atsushi Takeda, Katsuyuki Shirakura

Research output: Contribution to journalArticlepeer-review

26 Citations (Scopus)

Abstract

Recently, α-synuclein attracted attention when Polymeropoulos and colleagues identified a missense mutation of this gene (Science 276:2045- 2047, 1997), which is responsible for a form of early-onset familial Parkinson's disease (PD). Immunohistochemically, α-synuclein is localized in Lewy bodies, characteristic brain pathology of PD, dementia with Lewy bodies (DLB), and Alzheimer's disease (AD), suggesting that this protein may link these common neurological diseases. Exploration of the possibility that the same mutation of the α-synuclein gene as that in familial PD (Ala53Thr) may also confer susceptibility to sporadic PD, DLB, and AD revealed the mutation in none of the samples of 329 cases and 230 controls examined, suggesting that this mutation is not involved in these neurological diseases.

Original languageEnglish
Pages (from-to)164-166
Number of pages3
JournalExperimental Neurology
Volume153
Issue number1
DOIs
Publication statusPublished - 1998 Sep

Keywords

  • Alzheimer's disease
  • Dementia with Lewy bodies
  • Missense mutation
  • Parkinson's disease
  • α-synuclein

ASJC Scopus subject areas

  • Neurology
  • Developmental Neuroscience

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