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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
The basal ganglia is a collective group of structures in the brain. These include the striatum, (composed of the putamen and caudate nucleus), globus pallidus, substantia nigra, and the subthalamic nucleus. Along with other structures, the basal ganglia are part of a neural circuit that is integral to voluntary motor function. [1]
The term "basal" comes from the fact that most of its elements are located in the basal part of the forebrain. The term ganglia is a misnomer: In modern usage, neural clusters are called "ganglia" only in the peripheral nervous system ; in the central nervous system they are called "nuclei".
The putamen is located in the rostral division as part of the striatum. The basal ganglia receive input from the cerebral cortex, via the striatum. This is a transverse section of the striatum from a structural MR image. The striatum includes the caudate nucleus (top) and putamen (right) and the globus pallidus (left).
The subthalamic nucleus (STN) is a small lens-shaped nucleus in the brain where it is, from a functional point of view, part of the basal ganglia system. In terms of anatomy, it is the major part of the subthalamus. As suggested by its name, the subthalamic nucleus is located ventral to the thalamus.
Mutations in the SLC20A2 gene are associated with idiopathic basal ganglia calcification (Fahr's syndrome).This association suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter.
The globus pallidus (GP), also known as paleostriatum or dorsal pallidum, [1] is a major component of the subcortical basal ganglia in the brain.It consists of two adjacent segments, one external (or lateral), known in rodents simply as the globus pallidus, and one internal (or medial).
The external capsule is a route for cholinergic fibers from the basal forebrain to the cerebral cortex. The putamen separates the external capsule from the internal capsule medially and the claustrum separates it from the extreme capsule laterally. But the external capsule eventually joins the internal capsule around the lentiform nucleus.