Synonyms:
a.k.a. idiopathic basal ganglia calcification
Diagnosis:
A combination of clinical features, imaging and other testing
Clinical features:
- 30-60 y.o.
- Progressive dystonia, dysphagia, neuropsychiatric symptoms, ataxia
Genetics:
- Autosomal dominant
- Chr. 14q,
Findings on investigations:
CT: calcification in the globus pallidus, but also occurs in putamen, caudate, dentate, thalamus and cerebral white matter
Serum calcium & phosphate: Normal
Investigations for hyperparathyroidism: negative