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. © 2014 International Parkinson and Movement Disorder Society. © 2014 International Parkinson and Movement Disorder Society. KEYWORDS: Fahr's disease; SLC20A2; brain calcification; primary familial brain calcification
Taglia, I., Mignarri, A., Olgiati, S., Menci, E., Petrocelli, P.l., Breedveld, G.j., et al. (2014). Primary familial brain calcification: Genetic analysis and clinical spectrum. MOVEMENT DISORDERS, 29(13), 1691-1695 [10.1002/mds.26053].
Primary familial brain calcification: Genetic analysis and clinical spectrum.
MIGNARRI, ANDREA;FEDERICO, ANTONIO;DOTTI, MARIA
2014-01-01
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. © 2014 International Parkinson and Movement Disorder Society. © 2014 International Parkinson and Movement Disorder Society. KEYWORDS: Fahr's disease; SLC20A2; brain calcification; primary familial brain calcificationFile | Dimensione | Formato | |
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https://hdl.handle.net/11365/48879
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