Primary Familial Brain Calcification: Genetic Analysis and Clinical Spectrum

I Taglia, A Mignarri, Simone Olgiati, E Menci, PL Petrocelli, Guido Breedveld, C Scaglione, P Martinelli, A Federico, Vincenzo Bonifati, MT Dotti

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BackgroundPrimary 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. MethodsSeven 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. ResultsMutations 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. ConclusionsThis 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. (c) 2014 International Parkinson and Movement Disorder Society
Original languageUndefined/Unknown
Pages (from-to)1691-1695
Number of pages5
JournalMovement Disorders
Issue number13
Publication statusPublished - 2014

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