Primary familial brain calcification (PFBC): genetics and pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Primary familial brain calcification (PFBC): genetics and pathology. The transmission is autosomal dominant. Fully referenced neurology checklist.
Genetics
- The transmission is autosomal dominant
- It may show anticipation
- It may be non-familial
- The onset age is between 30 to 60 years
Genetic mutations
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Sites of calcification
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Other radiological features
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Synonyms
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References
- Geschwind DH, Logonov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hun Genet 1999; 65:764-772.
- Calabrò RS, Spadaro L, Marra A, Bramanti P. Fahr's disease presenting with dementia at onset: a case report and literature review. Behav Neurol 2014; 2014:750975.
- Modrego PJ, Mojonero J, Serrano M, Fayed N. Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci 2005; 26:367-369.
- Nicolas G, Pottier C, Charbonnier C, et al; French IBGC Study Group. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013; 136:3395-3407.
- Lemos RR, Ramos EM, Legati A, et al. Update and mutational analysis of SLC20A2: a major cause of primary familial brain calcification. Hum Mutat 2015; 36:489-495.
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