Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions

2021 ◽  
Vol 43 (2) ◽  
pp. 331-336
Author(s):  
Li-Ou Tang ◽  
Bing-Hui Hou ◽  
Xiao-Na Zhang ◽  
Zhao-Yan Xi ◽  
Chun-Xiao Li ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Brain Calcification

Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses

2020 ◽  
Vol 714 ◽  
pp. 134543 ◽  
Author(s):  
Fei-Xia Zhan ◽  
Wo-Tu Tian ◽  
Chao Zhang ◽  
Ze-Yu Zhu ◽  
Shi-Ge Wang ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Brain Calcification ◽  
Functional Analyses

A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis-

2020 ◽  
Vol 418 ◽  
pp. 117091
Author(s):  
Akihiko Mitsutake ◽  
Takashi Matsukawa ◽  
Kristine Joyce L. Porto ◽  
Tatsuya Sato ◽  
Junko Katsumata ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Japanese Family ◽  
Primary Familial Brain Calcification ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Brain Calcification

JAM2: A New Culprit at the Pathophysiology of Primary Familial Brain Calcification

2021 ◽  
Author(s):  
Waydja L. V. A. Marinho ◽  
João Ricardo M. de Oliveira
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification

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.

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification

2017 ◽  
Vol 370 (2) ◽  
pp. 267-273 ◽  
Author(s):  
Xiang-Ping Yao ◽  
Miao Zhao ◽  
Chong Wang ◽  
Xin-Xin Guo ◽  
Hui-Zhen Su ◽  
...  
Keyword(s):  
Gene Expression ◽  
Functional Characterization ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Pathogenic Gene

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 Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia

Brain ◽  
2020 ◽  
Vol 143 (5) ◽  
pp. e36-e36
Author(s):  
Gerard Saranza ◽  
Karen Grütz ◽  
Christine Klein ◽  
Ana Westenberger ◽  
Anthony E Lang
Keyword(s):  
Paroxysmal Kinesigenic Dyskinesia ◽  
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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