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<p>Rare loss-of-function variants in <i>ITSN1</i> were recently reported to confer a high risk for Parkinson’s disease (PD). From our local large exome sequencing dataset of PD cases, we identified five carriers from three families. Clinical features of <i>ITSN1</i>-PD are typical and responsive to standard treatments. Additionally, we discuss whether <i>ITSN1</i> loss-of-function variants should only be considered as a high-risk factor or a Mendelian PD gene.</p>

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Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月17日

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  • Guillaume Cogan,
  • Christelle Tesson,
  • Lisa Welment,
  • Fabienne Clot,
  • Eric LeGuern,
  • Aymeric Lanore,
  • Alexandra Dürr,
  • Florence Cormier-Dequaire,
  • Bérengère Debilly,
  • Marc Planes,
  • Graziella Mangone,
  • Suzanne Lesage,
  • Alexis Brice

摘要

Rare loss-of-function variants in ITSN1 were recently reported to confer a high risk for Parkinson’s disease (PD). From our local large exome sequencing dataset of PD cases, we identified five carriers from three families. Clinical features of ITSN1-PD are typical and responsive to standard treatments. Additionally, we discuss whether ITSN1 loss-of-function variants should only be considered as a high-risk factor or a Mendelian PD gene.