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Introduction <p>Little is known regarding the relationship between methylation levels and Frontotemporal Dementia (FTD).</p> Objective <p>The objective of the present study was to assess the relationship between blood <i>MAPT</i> methylation levels and clinical expression in FTD.</p> Methods <p>This cross-sectional observational study was conducted including 54 Italian patients with different phenotypes: 22 behavioral variant FTD (bvFTD), 10 semantic variant (svPPA), 22 non-fluent variant (nfv) Primary Progressive Aphasia (PPA).</p> Results <p>Results reveal a negative correlation between <i>MAPT</i> methylation levels determined by pyrosequencing analysis and the severity of disease in the FTD group and highlight an association between nfvPPA variant and intermediate-high levels of <i>MAPT</i> methylation, which persists also considering disease severity.</p> Conclusions <p>Our findings allow us to speculate that the degree of <i>MAPT</i> methylation in the blood, a test minimally invasive, cost-effective, and easily repeatable could be useful to differentiate FTD variants at onset and to confirm disease stage in symptomatic FTD patients. Further studies, also with a longitudinal design, are warranted to confirm our results.</p>

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“Assessing relationship between blood MAPT methylation levels and clinical expression in Frontotemporal Dementia”

  • 期刊论文

  • 发表日期：

    2025年6月16日

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  • Gemma Lombardi,
  • Silvia Bagnoli,
  • Assunta Ingannato,
  • Alice Finocchi,
  • Silvia Campagnini,
  • Silvia Fostinelli,
  • Antonio Longobardi,
  • Roberta Ghidoni,
  • Giuliano Binetti,
  • Barbara Borroni,
  • Jasmine Rivolta,
  • Sonia Padiglioni,
  • Valentina Bessi,
  • Sandro Sorbi,
  • Benedetta Nacmias

摘要

Introduction

Little is known regarding the relationship between methylation levels and Frontotemporal Dementia (FTD).

Objective

The objective of the present study was to assess the relationship between blood MAPT methylation levels and clinical expression in FTD.

Methods

This cross-sectional observational study was conducted including 54 Italian patients with different phenotypes: 22 behavioral variant FTD (bvFTD), 10 semantic variant (svPPA), 22 non-fluent variant (nfv) Primary Progressive Aphasia (PPA).

Results

Results reveal a negative correlation between MAPT methylation levels determined by pyrosequencing analysis and the severity of disease in the FTD group and highlight an association between nfvPPA variant and intermediate-high levels of MAPT methylation, which persists also considering disease severity.

Conclusions

Our findings allow us to speculate that the degree of MAPT methylation in the blood, a test minimally invasive, cost-effective, and easily repeatable could be useful to differentiate FTD variants at onset and to confirm disease stage in symptomatic FTD patients. Further studies, also with a longitudinal design, are warranted to confirm our results.