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GTR Home > Conditions/Phenotypes > Basal ganglia calcification, idiopathic, 8, autosomal recessive

Basal ganglia calcification, idiopathic, 8, autosomal recessive

Summary

Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by Schottlaender et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C21orf43, CD322, IBGC8, JAM-B, JAMB, PRO245, VE-JAM, VEJAM, JAM2
    Summary: junctional adhesion molecule 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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