Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

Abstract

SLC20A2 mutations are a major cause of familial IBGC in Japan. The members in the families with the same mutation had similar patterns of calcification in the brain and the affected members showed similar clinical manifestations.

Fahr’s Disease Presenting as Bipolar Affective Disorder - Case Report

“…It is inherited autosomally, but sporadic cases have also been observed. Several genes have an impact with a predominantly role of IBGC1 locus of chromosome 14q as well as the heterozygous mutation in the SLC20A2 locus of chromosome 8r11 [5,11].…”

“…The secondary calcium accumulation in the basal ganglia (e.g. in endocrine-metabolic pathway), is defined as a Fahr's syndrome [7][8][9][10][11][12].…”

Primary familial brain calcification: update on molecular genetics

“…On the other hand, the mutation p.Glu1071Val does not affect the phosphorylation and the signalling and probably it might be a polymorphism [28]. It has been hypothesized that the loss of function of PDGFRb could lead to the impairment of the blood brain barrier (BBB) integrity, [2] c.1802C[T p.Ser601Leu Exon 11 [2,22] c.1828_1831delTCC p.Ser610Alafs*17 Exon 11 [22] c.1909A[C p.Ser637Arg Exon 11 [37] g.42275321_42329908del Whole gene [24] Neurol Sci causing vascular and perivascular calcium accumulation [3]. Moreover, a deficient PDGF-b signalling is highly damaging to VSMCs and pericytes, resulting in complete lack of pericytes or pericyte hypoplasia, endothelial hyperplasia, increased vessel diameter, increased vascular permeability and vessel instability [4,27].…”

Fahr’s syndrome and clinical correlation: a case series and literature review

“…In published studies, these three genes account for approximately 50% of cases [8,10,23,26,52,54,73,74]. However, in most of these studies, only the SLC20A2 gene was examined, and only by Sanger sequencing.…”