Maggio Maria Grazia, Billeri Luana, Cardile Davide, Quartarone Angelo, Calabrò Rocco Salvatore
IRCCS Centro Neurolesi Bonino-Pulejo, S.S. 113 Via Palermo, C. da Casazza, 98124 Messina, Italy.
Biomedicines. 2023 Dec 22;12(1):39. doi: 10.3390/biomedicines12010039.
Huntington's disease is an autosomal dominant neurodegenerative disease caused by the repetition of cytosine, adenine, and guanine trinucleotides on the short arm of chromosome 4p16.3 within the Huntingtin gene. In this study, we aim to examine and map the existing evidence on the use of innovations in the rehabilitation of Huntington's disease. A scoping review was conducted on innovative rehabilitative treatments performed on patients with Huntington's disease. A search was performed on PubMed, Embase, Web of Science, and Cochrane databases to screen references of included studies and review articles for additional citations. Of an initial 1117 articles, only 20 met the search criteria. These findings showed that available evidence is still limited and that studies generally had small sample sizes and a high risk of bias. Regarding cognitive rehabilitation, it has emerged that VR- and PC-based methods as well as NIBS techniques are feasible and may have promising effects in individuals with Huntington's disease. On the other hand, scarce evidence was found for cognitive and motor training that might have a slight impact on overall cognitive function in individuals with Huntington's disease. Data show that further investigation is needed to explore the effects of innovative rehabilitation tools on cognition, especially considering that cognitive and psychiatric symptoms can precede the onset of motor symptoms by many years.
亨廷顿舞蹈症是一种常染色体显性神经退行性疾病，由亨廷顿基因内4号染色体短臂p16.3上的胞嘧啶、腺嘌呤和鸟嘌呤三核苷酸重复所致。在本研究中，我们旨在审视和梳理关于亨廷顿舞蹈症康复中创新疗法应用的现有证据。我们对针对亨廷顿舞蹈症患者开展的创新性康复治疗进行了一项范围综述。我们在PubMed、Embase、科学网和考克兰数据库中进行检索，以筛选纳入研究的参考文献，并查阅综述文章以获取更多引用文献。在最初检索到的1117篇文章中，只有20篇符合检索标准。这些研究结果表明，现有证据仍然有限，而且研究样本量通常较小，存在较高的偏倚风险。关于认知康复，基于虚拟现实和电脑的方法以及无创脑刺激技术已显示出可行性，可能对亨廷顿舞蹈症患者有积极效果。另一方面，关于认知和运动训练对亨廷顿舞蹈症患者整体认知功能可能有轻微影响的证据稀少。数据表明，需要进一步研究以探索创新康复工具对认知的影响，特别是考虑到认知和精神症状可能比运动症状早出现许多年。
