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primary familial brain calcification

Shin-Ichiro Sekine, Kazuya Nishii, Tomohiko Masaka, Hisaka Kurita, Masatoshi Inden, Isao Hozumi
Idiopathic Basal Ganglia Calcification (IBGC) is a rare neuropsychiatric illness also known as Fahr's disease or Primary Familial Brain Calcification (PFBC). IBGC is caused by SLC20A2 variants, which encodes the inorganic phosphate (Pi) transporter PiT-2, a transmembrane protein associated with Pi homeostasis. We have reported novel SLC20A2 variants in the Japanese population and established an induced pluripotent stem cells (iPSCs) from an IBGC patient carrying a SLC20A2 variant. To investigate the effect of these SLC20A2 variants identified in our previous study, we used Chinese hamster ovary (CHO) cells expressing these variant proteins using the Flp-In system (Flp-In CHO cells), and showed that variant SLC20A2 proteins significantly disrupted the Pi transport activity in Flp-In CHO cells...
January 28, 2019: Biochemical and Biophysical Research Communications
Daniel Alvarez-Fischer, Ana Westenberger
No abstract text is available yet for this article.
January 24, 2019: Movement Disorders: Official Journal of the Movement Disorder Society
David Arkadir, Alexander Lossos, Dolev Rahat, Muneer Abu Snineh, Ora Schueler-Furman, Silvia Nitschke, Berge A Minassian, Yair Sadaka, Israela Lerer, Yuval Tabach, Vardiella Meiner
Objective: To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease. Methods: Whole exome sequencing and Sanger-based segregation analysis were used to identify possible disease causing mutations. Mutation pathogenicity was validated by structural protein modeling. Functional associations between the candidate gene, MYORG , and genes previously implicated in the disease were examined through phylogenetic profiling...
January 2019: Annals of Clinical and Translational Neurology
Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, Muhannad Assi, Tuncay Seker, Ceren Tunca, Antje Knehr, Tim M Strom, Martin Gorges, Falk Schradt, Thomas Meitinger, Albert C Ludolph, Elmar H Pinkhardt, A Nazli Basak, Jan Kassubek, Ingo Uttner, Jochen H Weishaupt
No abstract text is available yet for this article.
January 12, 2019: Brain: a Journal of Neurology
Yuan-Tao Huang, Li-Hua Zhang, Mei-Fang Li, Lin Cheng, Guo-Ying Zou, Hong-Hao Zhou
BACKGROUND: Primary familial brain calcification (PFBC) is a rare degenerative disease characterized by symmetrical bilateral calcinosis in the basal ganglia and other brain regions. It has an autosomal dominant inheritance pattern in most cases and exhibits genetic heterogeneity. Previous studies reported that SLC20A2, PDGFRB, PDGFB, XPR1 and MYORG are associated with PFBC, with SLC20A2 the main culprit. However, other mutations may also cause PFBC. Here, we performed a study to reveal the contributing mutations that gave rise to PFBC in a Chinese PFBC family...
January 8, 2019: Brain Research Bulletin
Isao Hozumi
Idiopathic basal ganglia calcification (IBGC), which is also called Fahr's disease or recently referred to as primary familial brain calcification (PFBC), is an idiopathic and intractable disease characterized by abnormal deposits of minerals including calcium in the basal ganglia and other brain regions such as the thalamus and cerebellum. Mutations in SLC20A2, PDGFRB, PDGFB, XPR1, MYORG have been reported in the past several years. The pathophysiological basis presumed by the genetic studies is the impairment of the transport of inorganic phosphate (Pi) into and out of cells in the brain...
January 2019: Brain and Nerve, Shinkei Kenkyū No Shinpo
Xin-Xin Guo, Xiao-Huan Zou, Chong Wang, Xiang-Ping Yao, Hui-Zhen Su, Lu-Lu Lai, Hai-Ting Chen, Jing-Hui Lai, Yao-Bin Liu, Dong-Ping Chen, Yu-Chun Deng, Pan Lin, Hua-Song Lin, Bing-Cong Hong, Qing-Yang Yao, Xue-Jiao Chen, Dan-Qin Huang, Hong-Xia Fu, Ji-Dong Peng, Yan-Fang Niu, Yu-Ying Zhao, Xiao-Qun Zhu, Xiao-Pei Lu, Hai-Liang Lin, Yong-Kun Li, Chang-Yun Liu, Gen-Bin Huang, Ning Wang, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder with four causative genes (SLC20A2, PDGFRB, PDGFB and XPR1) that have been identified. Here, we aim to describe the mutational spectrum of four causative genes in a series of 226 unrelated Chinese PFBC patients. Mutations in four causative genes were detected in 16.8% (38/226) of PFBC patients. SLC20A2 mutations accounted for 14.2% (32/226) of all patients. Mutations in the other three genes were relatively rare, accounting for 0...
January 4, 2019: Human Mutation
Rayssa Leal Borges-Medeiros, Laura Durão Ferreira, João Ricardo Mendes de Oliveira
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by symmetrical and bilateral brain calcification. It is typically inherited as an autosomal dominant disorder, and de novo variants have also been described. Interestingly, just recent studies have reported the first autosomal recessive PFBC-causative gene. PFBC patients exhibit high clinical heterogeneity including Parkinsonism, dystonia, ataxia, depression, and migraine. Mice studies, an important research tool, have been a breakthrough in increasing the understanding of PFBC's main signs and symptoms, and many findings reported in these mice have been subsequently reported in patients...
January 3, 2019: Journal of Molecular Neuroscience: MN
You Chen, Feng Fu, Si Chen, Zhidong Cen, Haiyan Tang, Jinxiu Huang, Fei Xie, Xiaosheng Zheng, Dehao Yang, Haotian Wang, Xuerong Huang, Yun Zhang, Yongji Zhou, Jing-Yu Liu, Wei Luo
BACKGROUND: Very recently, the MYORG gene was identified as a novel causative gene for autosomal-recessive primary familial brain calcification. OBJECTIVE: To investigate the clinical, genetic, and neuroradiological characteristics of primary familial brain calcification patients with biallelic MYORG mutations in China. METHODS: We collected clinical and neuroradiological data of 169 Chinese patients with primary familial brain calcification, including 151 sporadic patients and 18 patients from 13 families compatible with an autosomal-recessive mode of inheritance...
December 27, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Takuya Konno, Koji Kasanuki, Takeshi Ikeuchi, Dennis W Dickson, Zbigniew K Wszolek
Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Through the analyses of mutation carriers, CSF1R -related leukoencephalopathy has been distinctly characterized clinically, radiologically, and pathologically. Typically, patients present with frontotemporal dementia-like phenotype in their 40s-50s, accompanied by motor symptoms, including pyramidal and extrapyramidal signs...
November 14, 2018: Neurology
Laura Durão Ferreira, João Ricardo Mendes de Oliveira
No abstract text is available yet for this article.
July 26, 2018: Journal of Neuropsychiatry and Clinical Neurosciences
Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, Joana Ferreira, Andrea Legati, Renee Louise Sears, Sandy Chan Hsu, Celeste Panteghini, Luca Magistrelli, Ettore Salsano, Silvia Esposito, Franco Taroni, Anne-Claire Richard, Christine Tranchant, Mathieu Anheim, Xavier Ayrignac, Cyril Goizet, Marie Vidailhet, David Maltete, David Wallon, Thierry Frebourg, Lylyan Pimentel, Daniel H Geschwind, Olivier Vanakker, Douglas Galasko, Brent L Fogel, A Micheil Innes, Alison Ross, William B Dobyns, Diana Alcantara, Mark O'Driscoll, Didier Hannequin, Dominique Campion, João R Oliveira, Barbara Garavaglia, Giovanni Coppola, Gaël Nicolas
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history...
October 2018: European Journal of Human Genetics: EJHG
Xiang-Ping Yao, Xuewen Cheng, Chong Wang, Miao Zhao, Xin-Xin Guo, Hui-Zhen Su, Lu-Lu Lai, Xiao-Huan Zou, Xue-Jiao Chen, Yuying Zhao, En-Lin Dong, Ying-Qian Lu, Shuang Wu, Xiaojuan Li, Gaofeng Fan, Hongjie Yu, Jianfeng Xu, Ning Wang, Zhi-Qi Xiong, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction...
June 27, 2018: Neuron
Nina Jensen, Henrik D Schrøder, Eva K Hejbøl, Jesper S Thomsen, Annemarie Brüel, Frederik T Larsen, Mikkel C Vinding, Dariusz Orlowski, Ernst-Martin Füchtbauer, João R M Oliveira, Lene Pedersen
Brain calcification of especially the basal ganglia characterizes primary familial brain calcification (PFBC). PFBC is a rare neurodegenerative disorder with neuropsychiatric and motor symptoms, and only symptomatic treatment is available. Four PFBC-associated genes are known; approximately 40% of patients carry mutations in the gene SLC20A2, which encodes the type III sodium-dependent inorganic phosphate transporter PiT2. To investigate the role of PiT2 in PFBC development, we studied Slc20a2-knockout (KO) mice using histology, microcomputed tomography, electron microscopy, and energy-dispersive X-ray spectroscopy...
August 2018: American Journal of Pathology
Takuya Konno, Patrick R Blackburn, Todd D Rozen, Jay A van Gerpen, Owen A Ross, Paldeep S Atwal, Zbigniew K Wszolek
AIM OF THE STUDY: To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. MATERIALS AND METHODS: We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members...
May 2018: Neurologia i Neurochirurgia Polska
Isao Hozumi, Hisaka Kurita, Kazuhiro Ozawa, Nobuyuki Furuta, Masatoshi Inden, Shin-Ichiro Sekine, Megumi Yamada, Yuichi Hayashi, Akio Kimura, Takashi Inuzuka, Mitsuru Seishima
INTRODUCTION: Idiopathic basal ganglia calcification (IBGC), also called Fahr's disease or recently primary familial brain calcification (PFBC), is characterized by abnormal deposits of minerals including calcium mainly and phosphate in the brain. Mutations in SLC20A2 (IBGC1 (merged with former IBGC2 and IBGC3)), which encodes PiT-2, a phosphate transporter, is the major cause of IBGC. Recently, Slc20a2-KO mice have been showed to have elevated levels of inorganic phosphorus (Pi) in cerebrospinal fluid (CSF); however, CSF Pi levels in patients with IBGC have not been fully examined...
May 15, 2018: Journal of the Neurological Sciences
Juliet K Knowles, Jonathan D Santoro, Brenda E Porter, Fiona M Baumer
Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A...
March 2018: Seizure: the Journal of the British Epilepsy Association
Xiaoyu Zhang, Gaoting Ma, Zhangning Zhao, Meijia Zhu
BACKGROUND: Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke. CASE PRESENTATION: A 56 years old man was transferred to our hospital because of 6 days of melena and 3 days of somnolence, agitation and mood changes...
January 19, 2018: BMC Neurology
Beatriz Quintáns, Joao Oliveira, María-Jesús Sobrido
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal movements, cognitive and psychiatric manifestations, clinically indistinguishable from other adult-onset neurodegenerative disorders. The differential diagnosis must be established with genetic and nongenetic disorders that can also lead to calcium deposits in encephalic structures. In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB)...
2018: Handbook of Clinical Neurology
Eraldo Fonseca Dos Santos Junior, Roberta Rodrigues de Lemos Gitirana, Darlene Paiva Bezerra, João Ricardo Mendes de Oliveira
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with autosomal dominant inheritance, and most of the cases are related to loss of function of the TSC1 and TSC2 genes. TSC may occur with a wide range of clinical findings and skin, kidney, brain, and heart are the most commonly affected organs. Brain calcifications in TSC are also described and reported as diffuse and without pattern of symmetry or bilaterality. Recently, a new discovery opened the possibility of using vitamin D (VitD) for treating cerebral calcifications...
January 2018: Journal of Molecular Neuroscience: MN
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