Fahr’s disease

Abstract

The scientific review based on an analysis of the literature examines key points in the etiology, pathomorphology and clinical picture of basal ganglia calcification. It also involves the so-called physiological calcification of the central nervous system. Juvenile and senile forms of a disease and frequency of occurrence of this nosological form are described. The historical information and modes of inheritance are briefly provided. The article considers the numerous synonyms of this disease and the causes of secondary calcification of the brain (Fahr’s syndrome). Four genes are described associated with primary calcification of the basal ganglia: SLC20A2 and XPR1 coding transmembrane conveyors of inorganic phosphate; PDGFB and PDGFRB which are involved in integrity of a blood-brain barrier and survival of pericytes. Pathogenetic mechanisms of clinical displays of a disease are presented. The article displays the features of macro- and microscopic changes in the brain with this nosology. The characteristic signs of the initial and advanced forms of the disease are described in detail, taking into account the age of the debut of calcification of the basal ganglia. The main and auxiliary instrumental methods for diagnosing this disease are also considered, the results of positron emission tomography and magnetic resonance spectroscopy are described, which confirm the pathophysiological mechanism of neurological manifestations of the disease associated with the disorganization of the front-striatal pathways in the area of ​​calcified basal ganglia. A number of additional general clinical laboratory and functional studies are listed to confirm or exclude the diagnosis of primary family idiopathic ferrocalcinosis (Fahr’s diseases). The main directions in the treatment of the described pathology are given.