論文

本文へのリンクあり 国際誌
2020年9月1日

Association of MAPT subhaplotypes with clinical and demographic features in Parkinson’s disease

Annals of Clinical and Translational Neurology
  • Angela B. Deutschlander
  • ,
  • Takuya Konno
  • ,
  • Alexandra I. Soto-Beasley
  • ,
  • Ronald L. Walton
  • ,
  • Jay A. van Gerpen
  • ,
  • Ryan J. Uitti
  • ,
  • Michael G. Heckman
  • ,
  • Zbigniew K. Wszolek
  • ,
  • Owen A. Ross

7
9
開始ページ
1557
終了ページ
1563
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1002/acn3.51139
出版者・発行元
WILEY

Objective: To determine whether distinct microtubule-associated protein tau MAPT H1 subhaplotypes are associated with clinical and demographic features in Parkinson’s disease. Methods: A retrospective cohort study included 855 unrelated Caucasian patients with Parkinson’s disease who were seen by Movement Disorder specialists at the Mayo Clinic Florida between 1998 and 2016. The primary outcome measures were specific demographic and clinical features of Parkinson’s disease, including age at onset, disease progression, survival, motor signs, dementia, dystonia, dyskinesia, autonomic dysfunction, impulse control disorder, psychiatric features, REM sleep behavior disorder, restless legs syndrome, and Parkinson’s disease subtype. Specific clinical features were measured at the initial visit and most recent visit. These outcomes were assessed for association with MAPT H1 subhaplotypes, which were defined by six haplotype tagging variants. Results: Median onset age was 64 years (range: 22-94 years); 548 (64%) of patients were male. Significant associations (P < 0.0029) were observed between MAPT H1b and orthostatic hypotension (OR = 1.72, P = 0.001); between H1j and rest tremor (OR = 0.15; P < 0.001) as well as REM sleep behavior disorder (OR = 3.87, P < 0.001); between H1r and bradykinesia (OR = 0.11; P < 0.001); and between H1v and restless legs syndrome (OR = 4.02, P = 0.002). Interpretation: Four MAPT H1 subhaplotypes, but not the H2 haplotype, were significantly associated with specific clinical features in Parkinson’s disease. MAPT haplotypic structure may explain some of the phenotypic variability in disease. Replication of our findings will be critical to fully resolve the Parkinson’s disease risk association signal at Chr17q21.

リンク情報
DOI
https://doi.org/10.1002/acn3.51139
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32767721
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480915
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000556429000001&DestApp=WOS_CPL
Scopus
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089065686&origin=inward 本文へのリンクあり
Scopus Citedby
https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85089065686&origin=inward
ID情報
  • DOI : 10.1002/acn3.51139
  • ISSN : 2328-9503
  • eISSN : 2328-9503
  • PubMed ID : 32767721
  • PubMed Central 記事ID : PMC7480915
  • SCOPUS ID : 85089065686
  • Web of Science ID : WOS:000556429000001

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