basal ganglia calcification, idiopathic, 9, autosomal recessive

Basal ganglia calcification, idiopathic, 9, autosomal recessive is a neurologically focused condition characterized by abnormal deposits in brain regions including the basal ganglia and cerebellum. It is associated with variants in the NAA60 gene, which plays a role in cellular functions that are still under investigation. The condition typically presents during childhood or adolescence with movement difficulties and mild cognitive changes, although age of onset can vary. Because precise prevalence data is not available, it is understood to be a rare condition that shows variability in its presentation and severity.

Individuals with this condition often experience a range of neurological and motor symptoms. Common neurological features include ataxia, seizures, mild intellectual disability, and parkinsonism. Additionally, many affected individuals may display signs of dystonia, abnormal extrapyramidal motor function, and cerebellar calcifications as seen on imaging studies. Other features, such as reduced cerebral white matter volume, macrocephaly, and migraines, have been noted, with less common findings including low-set ears, high palate, and motor delay. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by alterations in the NAA60 gene and follows an autosomal recessive inheritance pattern. In autosomal recessive conditions, an individual must inherit two copies of the altered gene, one from each parent, to develop the condition. This means that parents who share a common ancestor may have an increased likelihood of both carrying the same genetic change. Although the specific biological role of NAA60 is not fully detailed in available data, disruptions in its function are thought to lead to the neurological and motor symptoms observed in affected individuals. Genetic counseling is recommended to help families understand potential recurrence risks and implications for family planning. Associated genes include NAA60.