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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.
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.
Additional characteristics include short stature, obesity, developmental delay, and calcification of the basal ganglia in the deep white matter of the brain. [ citation needed ] Type 1a pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of ...
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 caudate nucleus is one of the structures that make up the corpus striatum, which is part of the basal ganglia in the human brain. [1] Although the caudate nucleus has long been associated with motor processes because of its role in Parkinson's disease, [2] [clarification needed] [3] it also plays important roles in nonmotor functions, such as procedural learning, [4] associative learning ...
Cerebral calcifications: Calcifications on CT (computed tomography) are seen as areas of abnormal signal, typically bilateral and located in the basal ganglia, but sometimes also extending into the white matter.
The common symptoms in all reported cases of primrose syndrome include ossified pinnae, learning disabilities or intellectual disability, hearing problems, movement disorders (ataxia, paralysis, and parkinsonism among others—likely due, in part, to calcification of the basal ganglia), a torus palatinus (a neoplasm on the mouth's hard palate), muscle atrophy, and distorted facial features.