严重的GBA1变异驱动GBA1- pd临床表型：对咨询和临床试验的影响

IF 8.2 1区医学 Q1 NEUROSCIENCES

NPJ Parkinson's Disease Pub Date : 2025-10-01 DOI:10.1038/s41531-025-01063-3

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

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引用次数: 0

摘要

GBA1基因变异是帕金森病（PD）最常见的遗传危险因素。基因型-表型相关性存在，但数据相互矛盾。在这里，我们比较了183例特发性PD （iPD）患者的临床表型，其中39例为重度GBA1-PD， 24例为轻度GBA1-PD， 55例为高危GBA1-PD。与iPD相比，我们观察到只有严重的GBA1-PD患者具有独特的，更多的临床特征，其特征是更严重的抑郁，低血压，认知功能障碍，可能还有便秘。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

NPJ Parkinson's Disease Medicine-Neurology (clinical)

CiteScore

9.80

自引率

5.70%

发文量

156

审稿时长

11 weeks

期刊介绍： npj Parkinson's Disease is a comprehensive open access journal that covers a wide range of research areas related to Parkinson's disease. It publishes original studies in basic science, translational research, and clinical investigations. The journal is dedicated to advancing our understanding of Parkinson's disease by exploring various aspects such as anatomy, etiology, genetics, cellular and molecular physiology, neurophysiology, epidemiology, and therapeutic development. By providing free and immediate access to the scientific and Parkinson's disease community, npj Parkinson's Disease promotes collaboration and knowledge sharing among researchers and healthcare professionals.