Mondo Description Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.
Uniprot Description A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.
Mondo Term and Equivalent IDs
MONDO:0014628: basal ganglia calcification, idiopathic, 6