Genetics of Familial Idiopathic Basal Ganglia Calcification (FIBGC)

The syndrome of familial, non arteriosclerotic, calcification of the basal ganglia not attributable to a metabolic, infectious, or toxic cause is a rare entity. The range of movement disorders is broad, including parkinsonian features, choreoathetosis, muscle spasms, myoclonia, dyskinesia, and tremor. Some families have prominent dystonia. The clinical presentation is usually that of an adult-onset neurodegenerative condition with variable combination of neuropsychiatric and movement disorders. Characteristic calcium deposits in the basal ganglia and other brain structures can be visualized on neuroimaging and are the hallmark of the disease. The first clinical manifestations of FIBGC typically present between the third and fifth decades after a normal physical and mental development in early years. Signs and symptoms are limited to the nervous system and may include a variable combination of neuropsychiatric, extra pyramidal, brainstem, and cerebellar signs. Whether familial and sporadic cases of idiopathic calcification of the basal ganglia represent the same disease entity is currently unknown.