Parkinson Disease and Complex ParkinsonismGene: XPR1
Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterised by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions. At least 5 unrelated families reported.
Sources: Expert list
Created: 23 Sep 2020, 1:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Basal ganglia calcification, idiopathic, 6, MIM# 616413
Variants in this GENE are reported as part of current diagnostic practice
gene: XPR1 was added gene: XPR1 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: XPR1 were set to 25938945 Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6, MIM# 616413 Review for gene: XPR1 was set to GREEN gene: XPR1 was marked as current diagnostic