MeSH Browser

MeSH Supplementary: Fahr's disease
Unique ID: C536275
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536275
Entry Term(s): Adult-onset idiopathic nonarteriosclerotic cerebral calcification; BSPDC Bilateral striopallidodentate calcinosis; Basal Ganglia Calcification, Idiopathic, 1; Bilateral Striopallidodentate Calcinosis; Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset; Cerebrovascular ferrocalcinosis; Fahr's syndrome; Familial idiopathic basal ganglia calcification; Ferrocalcinosis, Cerebrovascular; Fibgc; Idiopathic basal ganglia calcification 1; Striopallidodentate Calcinosis; Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset; Striopallidodentate Calcinosis, Bilateral; Striopallidodentate calcinosis, autosomal dominant, adult onset
Heading Mapped to: *Basal Ganglia Diseases; *Calcinosis; *Neurodegenerative Diseases
Frequency: 156
Note: 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 of Entry: 2010/08/25
Revision Date: 2020/02/28

Fahr's disease Preferred

Idiopathic basal ganglia calcification 1 Narrower

Fahr's disease MeSH Supplementary Concept Data 2024