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Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.
Neurogenetics ( IF 2.2 ) Pub Date : 2019-03-21 , DOI: 10.1007/s10048-019-00571-8 Eliana Marisa Ramos 1 , Alessandro Roca 2 , Noravit Chumchim 1 , Deepika Reddy Dokuru 1 , Victoria Van Berlo 1 , Giovanna De Michele 2 , Maria Lieto 2 , Enrico Tedeschi 3 , Giuseppe De Michele 2 , Giovanni Coppola 1
Neurogenetics ( IF 2.2 ) Pub Date : 2019-03-21 , DOI: 10.1007/s10048-019-00571-8 Eliana Marisa Ramos 1 , Alessandro Roca 2 , Noravit Chumchim 1 , Deepika Reddy Dokuru 1 , Victoria Van Berlo 1 , Giovanna De Michele 2 , Maria Lieto 2 , Enrico Tedeschi 3 , Giuseppe De Michele 2 , Giovanni Coppola 1
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Primary familial brain calcification (PFBC) is a rare disorder mostly characterized by calcium deposits in the basal ganglia and a wide spectrum of neurologic and psychiatric symptoms, typically inherited as an autosomal dominant trait. Recently, MYORG was reported as the first autosomal recessive causal gene in PFBC patients of Chinese and Middle Eastern origin. Herein, we describe the first PFBC patient of European descent found to carry a novel homozygous MYORG mutation (p.N511Tfs*243). Interestingly, the patient’s father, a heterozygous carrier of the same mutation, showed diffuse bilateral cerebral calcifications with no symptoms other than very mild postural tremor.
更新日期：2019-03-21
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