SLC20A2-Associated Idiopathic Basal Ganglia Calcification-Related Recurrent Psychosis Response to Low-Dose Antipsychotics: A Case Report and Literature Review

SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report

“…The proband in our study was treated with a low dose of quetiapine and responded well without any side effects, which is consistent with other reported cases [ 2 , 4 , 10 ]. However, the prescription of antipsychotic drugs for PFBC patients should be done with caution and personalized, as these drugs may exacerbate extrapyramidal symptoms.…”

“…However, the PFBC of these two patients were not genetically confirmed. Recently, Uno et al [ 4 ] reported the case of a PFBC patient with a SLC20A2 gene mutation who presented with purely recurrent psychiatric symptoms in a 10-year follow-up. These cases, including ours, raise the question that a putative purely psychiatric presentation of the disease would be a novel clinical finding.…”

“…Psychosis was observed in only 9% and 9.4% of these patients, respectively. Furthermore, the psychiatric symptoms presented by these patients are commonly associated with neurological presentations in most cases [ 1 , 4 ]. In addition, in 2016, the case of a white female carrying the same mutation identified in our study was reported.…”

The Pathology of Primary Familial Brain Calcification: Implications for Treatment

“…Recent cohort studies have expanded the causative gene mutation spectrum by identifying 248 different variants, including 125 in SLC20A2 (57 missense, 15 nonsense, 11 splicings, 30 small deletions, 4 small insertions, 1 intronic, and 7 gross deletions), 15 in PDGFRB (14 missense and 1 start loss), 26 in PDGFB (9 missense, 4 nonsense, 5 splicings, 1 small deletion, 1 small insertion, 2 start loss, 2 stop loss, 1 gross deletion, and 1 complete deletion), 14 in XPR1 (13 missense and 1 small insertion), 59 in MYORG (34 missense, 9 nonsense, 9 small deletions, 6 small insertions, and 1 small indel), and 8 in JAM2 (2 missense, 1 nonsense, 1 splicing, 2 small deletions, 1 start loss, and 1 gross deletion). The frequencies of these genes counted from 555 individuals with PFBC were 59.78%, 5.98%, 12.68%, 5.98%, 13.59%, and 1.99%, respectively [ 9 , 26 – 39 ] ( http://www.hgmd.cf.ac.uk/ac/index.php ), but the spectrum may vary among different cohorts and countries. Some mechanistic studies of these causative genes at the cellular level and in animals have been reported, contributing to the understanding of PFBC pathogenesis.…”

Brain anomalies in early psychosis: From secondary to primary psychosis

“…), particularly in relation to metal overload disorders that have basal ganglia tropism: in rare diseases with iron deposition -neuroferritinopathies, Hallervorden-Spatz disease, or neurodegeneration associated with a PLA2G6 mutation(Huang, Chiu, and Tsai 2018;Pilar del Valle-López 2011;Öner et al 2003;Maciel et al 2005), with copper deposition -Wilson's disease (A Basu et al 2015;Krstic, Antonijevic, and Spiric 2014),. and in diseases involving calcium accumulation -Fahr's disease, 22q11.2 deletion, idiopathic or pseudohypoparathyroidism diseases(Uno et al 2020;Plemeniti Tololeski et al 2019; …”