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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 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 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]
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.
Basal ganglia calcification, cerebellar atrophy, ... Children with MELAS often have normal early psychomotor development until the onset of symptoms between 2 and 10 ...
slightly decreased intellectual function: Although most individuals (approximately 85%) with kernicterus fall in normal or dull-normal range. epilepsy is uncommon. These impairments are associated with lesions in the basal ganglia, auditory nuclei of the brain stem, and oculomotor nuclei of the brain stem. Cortex and white matter are subtly ...
Corticobasal degeneration (CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. [1] CBD symptoms typically begin in people from 50 to 70 years of age, and typical survival before death is eight years.
The basal ganglia are located bilaterally, and have rostral and caudal divisions. 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.