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<p>Variants in the <i>GBA1</i> gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data. Here, we compared the clinical phenotype of 183 idiopathic PD (iPD) patients, 39 severe <i>GBA1</i>-PD, 24 mild <i>GBA1</i>-PD, and 55 risk <i>GBA1</i>-PD. Compared to iPD, we observed that only severe <i>GBA1</i>-PD patients had a distinctive, more several clinical profile, characterised by worse depression, hyposmia, cognitive dysfunction, and possibly constipation.</p>

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Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月1日

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  • Elisa Menozzi,
  • Sara Lucas Del Pozo,
  • Jane Macnaughtan,
  • Roxana Mezabrovschi,
  • Sofia Koletsi,
  • Pierfrancesco Mitrotti,
  • Luca Gallo,
  • Rosaria Calabrese,
  • Marco Toffoli,
  • Nadine Loefflad,
  • Franco Valzania,
  • Francesco Cavallieri,
  • Valentina Fioravanti,
  • Selen Yalkic,
  • Naomi Limbachiya,
  • Fabio Blandini,
  • Micol Avenali,
  • Anthony HV Schapira

摘要

Variants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data. Here, we compared the clinical phenotype of 183 idiopathic PD (iPD) patients, 39 severe GBA1-PD, 24 mild GBA1-PD, and 55 risk GBA1-PD. Compared to iPD, we observed that only severe GBA1-PD patients had a distinctive, more several clinical profile, characterised by worse depression, hyposmia, cognitive dysfunction, and possibly constipation.