Article
Primary familial brain calcification: Genetic analysis and clinical spectrum.
Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2014
Taglia Ilaria, Mignarri Andrea, Olgiati Simone, Menci Elisabetta, Petrocelli Patrizia L, Breedveld Guido J, Scaglione Cesa, Martinelli Paolo, Federico Antonio, Bonifati Vincenzo, Dotti Maria Teresa
Abstract excerpt
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...
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