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primary familial brain calcification

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https://www.readbyqxmd.com/read/30429277/-csf1r-related-leukoencephalopathy-a-major-player-in-primary-microgliopathies
#1
REVIEW
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
https://www.readbyqxmd.com/read/30045681/the-need-for-consensus-on-primary-familial-brain-calcification-nomenclature
#2
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
https://www.readbyqxmd.com/read/29955172/primary-brain-calcification-an-international-study-reporting-novel-variants-and-associated-phenotypes
#3
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
https://www.readbyqxmd.com/read/29910000/biallelic-mutations-in-myorg-cause-autosomal-recessive-primary-familial-brain-calcification
#4
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
https://www.readbyqxmd.com/read/29803831/mice-knocked-out-for-the-primary-brain-calcification-associated-gene-slc20a2-show-unimpaired-prenatal-survival-but-retarded-growth-and-nodules-in-the-brain-that-grow-and-calcify-over-time
#5
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
https://www.readbyqxmd.com/read/29680161/anticipation-in-a-family-with-primary-familial-brain-calcification-caused-by-an-slc20a2-variant
#6
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
https://www.readbyqxmd.com/read/29627011/inorganic-phosphorus-pi-in-csf-is-a-biomarker-for-slc20a2-associated-idiopathic-basal-ganglia-calcification-ibgc1
#7
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
https://www.readbyqxmd.com/read/29448117/refractory-focal-epilepsy-in-a-paediatric-patient-with-primary-familial-brain-calcification
#8
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
https://www.readbyqxmd.com/read/29351787/scl20a2-mutation-presenting-with-acute-ischemic-stroke-a-case-report
#9
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
https://www.readbyqxmd.com/read/29325620/primary-familial-brain-calcifications
#10
REVIEW
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
https://www.readbyqxmd.com/read/29230685/calcitriol-reverses-the-down-regulation-pattern-of-tuberous-sclerosis-complex-genes-in-an-in-vitro-calcification-model
#11
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
https://www.readbyqxmd.com/read/29152850/estimation-of-minimal-disease-prevalence-from-population-genomic-data-application-to-primary-familial-brain-calcification
#12
Gaël Nicolas, Camille Charbonnier, Dominique Campion, Joris A Veltman
Primary Familial Brain Calcification (PFBC) is a rare calcifying disorder of the brain with autosomal dominant inheritance, of unknown prevalence. Four causal genes have been identified so far: SLC20A2, PDGFB, PDGFRB, and XPR1, with pathogenic, probably pathogenic or missense variants of unknown significance found in 27.7% probands in the French PFBC series. Estimating PFBC prevalence from a clinical input is arduous due to a large diversity of symptoms and ages of onset and to incomplete clinical penetrance...
January 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29034894/induced-pluripotent-stem-cells-derived-from-a-patient-with-familial-idiopathic-basal-ganglia-calcification-ibgc-caused-by-a-mutation-in-slc20a2-gene
#13
Shin-Ichiro Sekine, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Ran Shibukawa, Kayoko Tsukita, Misato Funayama, Masatoshi Inden, Hisaka Kurita, Isao Hozumi, Haruhisa Inoue
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28935882/clinical-and-radiological-diversity-in-genetically-confirmed-primary-familial-brain-calcification
#14
Shingo Koyama, Hidenori Sato, Ryota Kobayashi, Shinobu Kawakatsu, Masayuki Kurimura, Manabu Wada, Toru Kawanami, Takeo Kato
Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of the most common movement disorders; however, the underlying mechanism remains unclear. This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC. The aim of the study was to identify the genetic cause of brain calcification in probands from three PFBC families and in 8 sporadic patients and to perform clinical and radiological assessments focusing on parkinsonism in mutation carriers...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28804758/brain-calcifications-and-pcdh12-variants
#15
Gaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, Roberta R Lemos, Joana Ferreira, Denis Moura, Maria J Sobrido, Anne-Claire Richard, Alma Rosa Lopez, Andrea Legati, Jean-François Deleuze, Anne Boland, Olivier Quenez, Pierre Krystkowiak, Pascal Favrole, Daniel H Geschwind, Adi Aran, Reeval Segel, Ephrat Levy-Lahad, Dennis W Dickson, Giovanni Coppola, Rosa Rademakers, João R M de Oliveira
OBJECTIVE: To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications. METHODS: We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with brain calcification of unknown cause (BCUC). RESULTS: We identified brain calcifications in subcortical and perithalamic regions in the patient with a homozygous PCDH12 nonsense variant...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28766044/analysis-of-gene-expression-and-functional-characterization-of-xpr1-a-pathogenic-gene-for-primary-familial-brain-calcification
#16
Xiang-Ping Yao, Miao Zhao, Chong Wang, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Hai-Ting Chen, Jing-Hui Lai, Yao-Bin Liu, Ning Wang, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a neuropsychiatric disorder characterized by bilateral cerebral calcification with diverse neurologic or psychiatric symptoms. Recently, XPR1 variation has accounted for PFBC as another new causative gene. However, little is known about the distribution and basic function of XPR1 and its interaction with the other three pathogenic genes for PFBC (SLC20A2, PDGFRB and PDGFB). The aim of this study was to further clarify the role of XPR1 in PFBC brain pathology. As a result, gene expression profiles showed that XPR1 mRNA was widely expressed throughout the mouse brain...
November 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#17
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary familial brain calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications, and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB, and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
March 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28609135/primary-familial-brain-calcifications-linked-with-a-novel-slc20a2-gene-mutation-in-a-chinese-family
#18
Tao-Mian Mi, Wei Mao, Yan-Ning Cai, Cai-Xia Yang, Chao-Dong Wang, Er-He Xu, Hui Zhang, Piu Chan
It has been recently reported that mutations in SLC20A2 gene are a major cause of primary familial brain calcifications, a rare neurodegenerative disorder characterized by symmetrical and bilateral intracranial calcification. We conducted a pedigree study by performing next Generation Sequencing in a Chinese family with three generations. Three members in this family developed Parkinsonism in their sixth decade, also, the proband presented with schizophrenia for 40 years. Next Generation Sequencing identified a novel nonsense heterozygous substitution c...
September 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28578517/phosphate-transporters-expression-in-patients-with-primary-familial-brain-calcifications
#19
L F Pimentel, R R Lemos, J R Oliveira
Primary familial brain calcification (PFBC), formerly known as Fahr disease, is a rare neurological disorder characterized by extensive calcification deposits in the brain. So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFβ, PDGFRβ, and XPR1. Using real-time qPCR, we analyzed the expression of three inorganic phosphate (Pi) transporters (SLC20A1, SLC20A2, and XPR1) in patients with PFBC. Our results showed a significant reduction (~40%) of SLC20A2 expression in the patients carrying mutation whereas no significant change was observed within the patients without known mutations...
August 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28298627/novel-mutations-of-pdgfrb-cause-primary-familial-brain-calcification-in-chinese-families
#20
Chong Wang, Xiang-Ping Yao, Hai-Ting Chen, Jing-Hui Lai, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Qi-Jie Zhang, Ning Wang, Wan-Jin Chen
Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified to cause primary familial brain calcification (PFBC). However, PDGFRB mutations seem to be quite rare and no PDGFRB mutations have been reported in Chinese PFBC patients. A total of 146 PFBC patients including 12 families and 134 sporadic patients were recruited in this study...
July 2017: Journal of Human Genetics
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