Quintáns Beatriz, Oliveira Joao, Sobrido María-Jesús
Instituto de Investigación Sanitaria (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.
Federal University of Pernambuco, Recife, Brazil.
Handb Clin Neurol. 2018;147:307-317. doi: 10.1016/B978-0-444-63233-3.00020-8.
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal movements, cognitive and psychiatric manifestations, clinically indistinguishable from other adult-onset neurodegenerative disorders. The differential diagnosis must be established with genetic and nongenetic disorders that can also lead to calcium deposits in encephalic structures. In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB). The most frequently mutated gene is SLC20A2, where mutations can affect any domain of the protein. There is no clearcut relationship between the specific mutation/gene, onset age, neuroimaging pattern, and severity of clinical manifestations. The discovery of the genetic basis of PFBC provides not only a diagnostic tool, but also an insight into the pathomechanisms and potential therapeutic trials for this rare disease.
原发性家族性脑钙化（PFBC）是一种神经退行性疾病，其特征是基底神经节和其他脑区出现钙沉积。该疾病通常表现为异常运动、认知和精神症状的组合，临床上与其他成人起病的神经退行性疾病难以区分。必须通过也可导致脑结构中钙沉积的遗传和非遗传疾病来进行鉴别诊断。在过去几年中，已在与磷酸钙稳态相关的基因（SLC20A2、XPR1）以及与内皮功能和完整性相关的基因（PDGFB、PDGFRB）中发现了PFBC致病突变。最常发生突变的基因是SLC20A2，其突变可影响该蛋白的任何结构域。特定突变/基因、发病年龄、神经影像学模式和临床表现严重程度之间没有明确的关系。PFBC遗传基础的发现不仅提供了一种诊断工具，还为这种罕见疾病的发病机制和潜在治疗试验提供了深入了解。
