Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization

2017 ◽  
Vol 233 (3) ◽  
pp. 2324-2331 ◽  
Author(s):  
Ilaria Taglia ◽  
Patrizia Formichi ◽  
Carla Battisti ◽  
Giulia Peppoloni ◽  
Melissa Barghigiani ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Slc20a2 Mutation

Novel SLC20A2 mutation in a Japanese pedigree with primary familial brain calcification

2019 ◽  
Vol 399 ◽  
pp. 183-185
Author(s):  
Yasuhiro Kuroi ◽  
Hiroyuki Akagawa ◽  
Taku Yoneyama ◽  
Asami Kikuchi ◽  
Tatsuya Maegawa ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Slc20a2 Mutation

Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia

2018 ◽  
Vol 390 ◽  
pp. 1-3 ◽  
Author(s):  
Haitian Nan ◽  
Ryusuke Takaki ◽  
Yuta Ichinose ◽  
Mai Tsuchiya ◽  
Kishin Koh ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Slc20a2 Mutation

A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification

Gene ◽  
2015 ◽  
Vol 568 (1) ◽  
pp. 109-111 ◽  
Author(s):  
Monica Gagliardi ◽  
Maurizio Morelli ◽  
Grazia Annesi ◽  
Giuseppe Nicoletti ◽  
Paolo Perrotta ◽  
...  
Keyword(s):  
Southern Italy ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Slc20a2 Mutation

scholarly journals Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽  
2021 ◽  
Author(s):  
Luca Magistrelli ◽  
Roberta Croce ◽  
Fabiola De Marchi ◽  
Chiara Basagni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Series ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Phenotypic Spectrum ◽  
Primary Familial Brain Calcification ◽  
Psychiatric Disturbances ◽  
Brain Calcification ◽  
Uncertain Significance ◽  
Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

scholarly journals MYORG is associated with recessive primary familial brain calcification

2018 ◽  
Vol 6 (1) ◽  
pp. 106-113 ◽  
Author(s):  
David Arkadir ◽  
Alexander Lossos ◽  
Dolev Rahat ◽  
Muneer Abu Snineh ◽  
Ora Schueler-Furman ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification

Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification

2016 ◽  
Vol 22 ◽  
pp. e174
Author(s):  
Sara Scannapieco ◽  
Monica Gagliardi ◽  
Grazia Annesi ◽  
Maurizio Morelli ◽  
Grazia Iannello ◽  
...  
Keyword(s):  
Southern Italy ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification

scholarly journals Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

2020 ◽  
Vol 106 (3) ◽  
pp. 412-421 ◽  
Author(s):  
Lucia V. Schottlaender ◽  
Rosella Abeti ◽  
Zane Jaunmuktane ◽  
Carol Macmillan ◽  
Viorica Chelban ◽  
...  
Keyword(s):  
Early Onset ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification
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