Skin alpha-synuclein deposit patterns: A predictor of Parkinson's disease subtypes

EBioMedicine. 2022 Jun:80:104076. doi: 10.1016/j.ebiom.2022.104076. Epub 2022 May 26.

Abstract

Parkinson's disease (PD) is a neurodegenerative disease characterized pathologically by the formation of Lewy bodies comprised mainly of α-synuclein. Assessment of skin synuclein has the potential as an excellent diagnostic method with high sensitivity, specificity, and reproducibility that is also convenient and acceptable to patients. In this review, we summarize findings regarding the characteristics of cutaneous nerve p-α-syn or α-syn deposits and their correlations with clinical phenotypes in PD patients with and without orthostatic hypotension and LRRK2, GBA, and SNCA gene mutations. This review can serve as a reference for the diagnosis and classification of PD based on α-syn deposit patterns and to deeply explore its pathogenesis. FUNDING STATEMENT: The work was partly supported by the National Natural Science Key Foundation of China (No. 81830040 and No 82130042) and the Program of Excellent Talents in Medical Science of Jiangsu Province (No. JCRCA2016006) .

Keywords: Alpha-synuclein; Autonomic dysfunction; GBA; LRRK2; Parkinson's disease; SNCA.

Publication types

  • Review

MeSH terms

  • Gene Expression
  • Humans
  • Neurodegenerative Diseases*
  • Parkinson Disease* / diagnosis
  • Parkinson Disease* / genetics
  • Parkinson Disease* / pathology
  • Reproducibility of Results
  • alpha-Synuclein / genetics

Substances

  • alpha-Synuclein