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Heredofamilial brain calcinosis syndrome.
Yasuhiko Baba1, Daniel F Broderick, Ryan J Uitti
1Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Fla 32224, USA.
Mayo Clinic Proceedings
|May 13, 2005
Summary
Brain calcinosis syndrome (BCS) involves calcium buildup in the brain, often linked to over 50 conditions. This review examines heredofamilial BCS features to aid clinical investigation.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Brain calcinosis syndrome (BCS) is characterized by bilateral calcium deposition in the brain's parenchyma, predominantly in the basal ganglia.
- Over 50 distinct clinical conditions have been associated with BCS.
- The underlying pathogenesis of BCS remains largely uncertain, particularly when metabolic abnormalities are absent.
Purpose of the Study:
- To review the clinical, radiological, and genetic features of heredofamilial BCS.
- To compile information on conditions associated with brain calcification reported between 1962 and 2003.
- To provide clinicians with valuable data for diagnostic strategies in BCS investigation.
Main Methods:
- Systematic literature review of English-language publications in MEDLINE.
- Inclusion of studies reporting on calcium accumulation in the brain.
- Focus on heredofamilial forms of BCS and associated conditions.
Main Results:
- The location, extent, and severity of brain calcification exhibit significant variability, even among patients with the same condition.
- Heredofamilial BCS is consistently present in the reviewed conditions.
- The diversity of BCS presentation underscores complex underlying mechanisms.
Conclusions:
- Understanding the diverse clinical, radiological, and genetic aspects of heredofamilial BCS is crucial.
- Further research into the complex pathogenesis of BCS is warranted, especially in cases without metabolic disturbances.
- This review offers a valuable resource for clinicians managing patients with brain calcinosis syndrome.