Senem Iara, Conde Rodrigo Melo, Foss Maria Paula, Axelsson Jan, Wixner Jonas, Marques Wilson
Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Bandeirantes Street 3900, Ribeirão Prêto, São Paulo, Brazil.
Departamento de Fisioterapia, Faculdade Anhanguera de Ribeirão Preto, Ribeirão Prêto, São Paulo, Brazil.
J Neurol. 2025 May 25;272(6):419. doi: 10.1007/s00415-025-13120-1.
Central Nervous System involvement in hereditary transthyretin amyloidosis (ATTRv) is present in liver transplanted patients with longstanding ATTRV30M amyloidosis, and in some rarer variants. The pathophysiology of brain involvement and its relationship with cognitive disturbances is unknown. This systematic review summarized the literature on brain and cognitive involvement in ATTRv amyloidosis and aimed to elucidate the reasons for such involvement.
The literature search was performed using the following databases: Medline/PubMed, Embase via Elsevier, Scopus, and Web of Science. Two assessors independently screened titles and abstracts, examined full texts, extracted data, and assessed the risk of bias. The risk of bias assessment was carried out using the JBI critical appraisal tools. This review included studies that applied any neuroimaging exam or cognitive assessment in humans with genetic confirmation of any TTR mutation.
59 studies met the inclusion criteria. Overall, the studies were of good quality. 57 studies reported at least one brain MRI technique. Only six studies reported a formal neuropsychological assessment. The studies included 1218 ATTRv patients (mean 45.7 ± 11.8 years) and 169 asymptomatic TTR variant carriers (mean 30.6 ± 7.5 years). The most common TTR variant was V30M (n = 936), followed by V122I (n = 74). 42.4% of ATTRv patients presented abnormalities in the neuroimaging exam and 19.7% presented cognitive dysfunction.
Based on the available evidence, brain involvement and cognitive symptoms can be present in ATTRv amyloidosis. Further research should explore the relationship of these symptoms with other complications (autonomic and cardiologic).
中枢神经系统受累见于患有长期ATTRv30M淀粉样变性的肝移植患者以及一些较为罕见的遗传性转甲状腺素蛋白淀粉样变性（ATTRv）变体患者。脑受累的病理生理学及其与认知障碍的关系尚不清楚。本系统评价总结了关于ATTRv淀粉样变性脑和认知受累的文献，并旨在阐明这种受累的原因。
使用以下数据库进行文献检索：Medline/PubMed、通过爱思唯尔的Embase、Scopus和科学网。两名评估人员独立筛选标题和摘要、审查全文、提取数据并评估偏倚风险。使用JBI批判性评价工具进行偏倚风险评估。本评价纳入了对任何TTR突变进行基因确认的人类应用任何神经影像学检查或认知评估的研究。
59项研究符合纳入标准。总体而言，这些研究质量良好。57项研究报告了至少一种脑MRI技术。只有六项研究报告了正式的神经心理学评估。这些研究包括12
