Artusi Carlo Alberto, Lopiano Leonardo
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
SC Neurologia 2U, AOU Città della Salute e della Scienza, Turin, Italy.
Front Neurol. 2023 Apr 14;14:1158977. doi: 10.3389/fneur.2023.1158977. eCollection 2023.
Parkinson's disease (PD) patients who are carriers of glucosylceramidase β1 (GBA1) gene mutations typically have an earlier age at onset and a more aggressive disease course, with a higher burden of neuropsychological issues. The use of deep brain stimulation (DBS) in PD patients with disabling motor fluctuations and absence of dementia is a widespread therapeutic option, often with good results in terms of improvement in activities of daily living and quality of life. Although all PD patients, when fulfilling the common selection criteria for DBS, can benefit from this intervention, some studies have raised attention toward the fact that PD patients who are carriers of GBA1 variants may have a worse DBS outcome possibly due to an accelerated progression of cognitive decline. From this viewpoint, we summarize the current literature, highlighting the knowledge gaps and proposing suggestions for further research as well as for clinical practice in this timeframe of uncertainty related to using DBS in PD patients who are carriers of GBA1 variants.
携带葡萄糖脑苷脂酶β1（GBA1）基因突变的帕金森病（PD）患者通常发病年龄较早，疾病进展更为迅速，神经心理问题负担较重。对于存在致残性运动波动且无痴呆的PD患者，采用深部脑刺激（DBS）是一种广泛应用的治疗选择，在改善日常生活活动和生活质量方面通常效果良好。尽管所有符合DBS常见选择标准的PD患者都能从这种干预中获益，但一些研究已引起关注，即携带GBA1变异的PD患者可能因认知衰退加速而导致DBS效果较差。从这一观点出发，我们总结了当前的文献，突出了知识空白，并针对在这个与对携带GBA1变异的PD患者使用DBS相关的不确定时期的进一步研究及临床实践提出建议。
