The hallmark of the syndrome is bilateral, symmetrical calcification of the basal ganglia seen on CNS imaging studies.
Other sites that may show calcifications include:
(1) thalamus
(2) hippocampus
(3) cerebral cortex
(4) cerebellar subcortical white matter
Occurrence:
(1) familial autosomal dominant
(2) familial autosomal recessive
(3) sporadic
Genetic loci associated with the disorder:
(1) IBGC1 on chromosome 14q
(2) SLC20A2 on chromosome 8p21
(3) chromosome 2q37
Clinical findings may include:
(1) extrapyramidal movement disorder (chorea, tremors, clumsiness, Parkinson-like, dystonia, bradykinesia, other)
(2) cerebellar signs
(3) impaired memory and/or concentration and/or inability to make decisions
(4) dementia
(5) psychiatric disorder (depression, psychosis, change in behavior)
(6) impaired speech
(7) seizures
