中国神经再生研究(英文版) ›› 2026, Vol. 21 ›› Issue (9): 4261-4262.doi: 10.4103/NRR.NRR-D-25-01159

• 观点:神经损伤修复保护与再生 • 上一篇    下一篇

遗传性弹性纤维疾病作为神经血管综合征:一个新兴的视角

  

  • 出版日期:2026-09-15 发布日期:2026-05-14

Genetic elastic fiber disordersas neurovascular syndromes: An emerging perspective

Francesc Jiménez-Altayó*   

  1. Department of Pharmacology, Therapeutics, and Toxicology, School of Medicine, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Spain
    Institute of Neurosciences, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Spain
    Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain
  • Online:2026-09-15 Published:2026-05-14
  • Contact: Francesc Jiménez-Altayó, PhD, francesc.jimenez@uab.cat.
  • Supported by:
    This work was supported by the Ministerio de Ciencia e Innovación and Agencia Estatal de Investigación of Spain [PID2020-113634RB-C22/AEI/10.13039/501100011033] and the Generalitat de Catalunya [2021 SGR 00969] (to FJA).

摘要: https://orcid.org/0000-0002-9034-2041 (Francesc Jiménez-Altayó)

Abstract: Genetic elastic fiber diseases arise from inherited or de novo mutations in genes encoding elastic fiber components, such as elastin, fibrillin-1, and associated proteins, leading to abnormalities in their deposition, structure, or degradation. Historically, research has focused on systemic, non-neurological manifestations, which are more clinically apparent and often life-threatening, particularly cardiovascular complications. In contrast, potential involvement of the central nervous system (CNS) has received limited attention, even though the brain and spinal cord are richly vascularized structures, extensively perfused, and critically dependent on the integrity of their blood vessels.