Primary familial brain calcification: Genetic analysis and clinical spectrum.
Article Details
- CitationCopy to clipboard
Taglia I, Mignarri A, Olgiati S, Menci E, Petrocelli PL, Breedveld GJ, Scaglione C, Martinelli P, Federico A, Bonifati V, Dotti MT
Primary familial brain calcification: Genetic analysis and clinical spectrum.
Mov Disord. 2014 Nov;29(13):1691-5. doi: 10.1002/mds.26053. Epub 2014 Oct 4.
- PubMed ID
- 25284758 [ View in PubMed]
- Abstract
BACKGROUND: Primary familial brain calcification (PFBC) is a rare autosomal dominant disorder with bilateral calcification of basal ganglia and other cerebral regions, movement disorders, and neuropsychiatric disturbances. So far, three causative genes have been discovered: SLC20A2, PDGFRB and PDGFB, accounting for approximately 50% of cases. METHODS: Seven unrelated families with primary brain calcification were recruited to undergo clinical and genetic analysis, including Sanger sequencing of SLC20A2, PDGFRB, and PDGFB, and copy number analysis of SLC20A2. RESULTS: Mutations in SLC20A2 have been detected in three families: p.Glu368Glyfs*46, p.Ser434Trp, and p.Thr595Met. Intrafamilial phenotype variability has been observed. In spite of this, we found similar neuroimaging pattern among members of the same family. CONCLUSIONS: This molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification, and suggests the existence of disease-causing mutations in at least another, still unknown gene.