Fahr's disease [Supplementary Concept]
A hereditary condition with autosomal dominant inheritance that is characterized by symmetric calcinosis in the basal ganglia and other brain regions. Patients can either be asymptomatic or show a variety of neuropsychiatric symptoms that include PARKINSONISM; DYSTONIA; TREMOR; ATAXIA; DEMENTIA; PSYCHOSIS; SEIZURES and CHRONIC HEADACHE. Serum levels of CALCIUM; PHOSPHATE; ALKALINE PHOSPHATASE and PARATHYROID HORMONE are normal. Onset is typically between 30 and 50 years of age. A heterozygous mutation in the SLC20A2 gene has been identified. OMIM: 213600
Date introduced: August 25, 2010
MeSH Unique ID: C536275
Heading Mapped to:
Entry Terms:
- Striopallidodentate Calcinosis
- Fahr's syndrome
- Familial idiopathic basal ganglia calcification
- Cerebrovascular ferrocalcinosis
- Ferrocalcinosis, Cerebrovascular
- Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset
- Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset
- Striopallidodentate Calcinosis, Bilateral
- Bilateral Striopallidodentate Calcinosis
- BSPDC Bilateral striopallidodentate calcinosis
- Adult-onset idiopathic nonarteriosclerotic cerebral calcification
- Fibgc
- Striopallidodentate calcinosis, autosomal dominant, adult onset
- Idiopathic basal ganglia calcification 1
- Basal Ganglia Calcification, Idiopathic, 1