Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Int J Mol Sci. 2023 May 19;24(10):8995. doi: 10.3390/ijms24108995.
Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium-phosphate metabolism derangement, autoimmune disorders and infections, among others). A set of causative genes associated with primary familial brain calcification (PFBC) has now been identified, and include genes such as , , , , , and . However, many more genes are known to be linked with complex syndromes characterized by brain calcifications and additional neurologic and systemic manifestations. Of note, many of these genes encode for proteins involved in cerebrovascular and blood-brain barrier functions, which both represent key anatomical structures related to these pathological phenomena. As a growing number of genes associated with brain calcifications is identified, pathways involved in these conditions are beginning to be understood. Our comprehensive review of the genetic, molecular, and clinical aspects of brain calcifications offers a framework for clinicians and researchers in the field.
许多疾病都会导致大脑中钙的积累，并表现出各种神经症状。脑钙化可分为原发性（特发性或遗传性）或由各种病理状况引起（例如钙磷代谢紊乱、自身免疫性疾病和感染等）。一组与原发性家族性脑钙化（PFBC）相关的致病基因现已被确定，包括 、 、 、 、 和 等基因。然而，还有许多基因与以脑钙化和其他神经及系统表现为特征的复杂综合征有关。值得注意的是，许多这些基因编码参与脑血管和血脑屏障功能的蛋白质，这两者都是与这些病理现象相关的关键解剖结构。随着越来越多与脑钙化相关的基因被确定，这些疾病的相关途径开始被理解。我们对脑钙化的遗传、分子和临床方面的全面综述为该领域的临床医生和研究人员提供了一个框架。
