basal ganglia calcification, idiopathic, 4

Basal ganglia calcification, idiopathic, 4 is a neurological condition characterized by abnormal calcium deposits in the basal ganglia. The condition has been linked to alterations in the PDGFRB gene, which plays a role in vascular and cellular signaling processes. It most often follows an autosomal dominant inheritance pattern and presents with a range of neurological features, although precise population prevalence is not well established. Not all individuals with the gene variant develop symptoms, and the clinical presentation can vary considerably.

The hallmark feature of this condition is the presence of basal ganglia calcification, which is reported in a majority of affected individuals. In addition, some patients may experience neurological and psychiatric manifestations such as parkinsonism, migraine, dementia, bipolar affective disorder, attention deficit hyperactivity disorder, and horizontal nystagmus. Not all individuals experience all features, and severity varies considerably. The range of symptoms underscores the variable expressivity associated with the condition.

Pathogenic variants in the PDGFRB gene are implicated in basal ganglia calcification, idiopathic, 4. This gene is thought to influence vascular stability and cellular communication, and its altered function may contribute to abnormal calcium deposition in the brain. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene can increase the risk of developing symptoms. However, not all individuals who carry the pathogenic variant will develop symptoms, and even within the same family, the specific symptoms and their severity can vary considerably (variable expressivity). Associated genes include PDGFRB.