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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 basal ganglia are of major importance for normal brain function and behaviour. Their dysfunction results in a wide range of neurological conditions including disorders of behaviour control and movement, as well as cognitive deficits that are similar to those that result from damage to the prefrontal cortex . [ 11 ]
The most consistent finding are widespread calcifications, which involve the white matter of the cerebrum mostly adjacent to the junction with the grey matter, the thalami, the basal ganglia and the brainstem. [1] [2] The white matter of the cerebellum and the dentate nuclei are less often involved. However, the brain may appear normal in the ...
Basal ganglia calcification, cerebellar ... Children with MELAS often have normal early psychomotor development until the onset of symptoms between 2 and 10 years old ...
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.
Calcification [55–95%] of the cerebral cortex (especially depths of sulci, basal ganglia, cerebellum, thalamus; also of the arteries, arterioles, and capillaries). Vascular changes - String vessels, especially in areas of Metachromatic leukodystrophy, calcification in leptomeningeal vessels, accelerated atherosclerosis and arteriolosclerosis.
Basal ganglia calcification is observed in all patients reported to date and represents the underlying autoinflammatory disease of excessive IFN-I activity, known as type I interferonopathy. [15] The basal ganglia calcifications may cause epileptic seizures but often are asymptomatic.